47 results on '"Pichiecchio A"'
Search Results
2. Efficacy and Safety of Gadopiclenol for Contrast-Enhanced MRI of the Central Nervous System
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Loevner, Laurie A., Kolumban, Balint, Hutóczki, Gábor, Dziadziuszko, Katarzyna, Bereczki, Daniel, Bago, Attila, and Pichiecchio, Anna
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- 2023
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3. Novel insights into the clinico-radiological spectrum of phenotypes associated to PIGN mutations.
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De Giorgis, Valentina, Paoletti, Matteo, Varesio, Costanza, Gana, Simone, Rognone, Elisa, Dallavalle, Gianfranco, Papalia, Grazia, and Pichiecchio, Anna
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PHENOTYPES ,CEREBRAL atrophy ,GENETIC variation ,EPILEPSY ,BRAIN abnormalities ,CONGENITAL disorders ,LENNOX-Gastaut syndrome - Abstract
Autosomic recessive mutations in the PIGN gene have been described in less than 30 subjects to date, in whom multiple congenital anomalies combined with severe developmental delay, hypotonia, epileptic encephalopathy, and cerebellar atrophy have been described as crucial features. A clear-cut neuroradiological characterization of this entity, however, is still lacking. We aim to present three pediatric PIGN mutated cases with an in-depth evaluation of their brain abnormalities. We present the neuroradiological, clinical, and genetic characterization of three Caucasian pediatric subjects with pathogenic/likely pathogenic variants in the PIGN gene revealed by Next Generation Sequencing analysis. We identified three subjects (two siblings, one unrelated case) presenting with encephalopathy with early-onset epilepsy, hypotonia, and severe global developmental delay. No additional severe multiple congenital anomalies were detected. Neuroradiological evaluation showed extensive quantitative reduction of white matter, severe and progressive cortical atrophy, with frontal predominance and an anteroposterior gradient, combined with cerebellar and brainstem atrophy. Our findings broaden and systematize the neuroradiological spectrum of abnormalities in PIGN related encephalopathy. Furthermore, our dataset confirms that mutations in PIGN gene appear to be pan-ethnic and represent an underestimated cause of early-onset encephalopathy. • PIGN related syndrome is an underestimated cause of DEE. • Multiple congenital anomalies are not constant key feature of the syndrome. • MRI findings should be regarded as highly suggestive for PIGN mutation. [ABSTRACT FROM AUTHOR]
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- 2021
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4. ARF1haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity
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Gana, Simone, Casella, Antonella, Cociglio, Sara, Tartara, Elena, Rognone, Elisa, Giorgio, Elisa, Pichiecchio, Anna, Orcesi, Simona, and Valente, Enza Maria
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The primary anatomical defect leading to periventricular nodular heterotopia occurs within the neural progenitors along the neuroepithelial lining of the lateral ventricles and results from a defect in the initiation of neuronal migration, following disruption of the neuroependyma and impaired neuronal motility. Growing evidence indicates that the FLNA-dependent actin dynamics and regulation of vesicle formation and trafficking by activation of ADP-ribosylation factors (ARFs) can play an important role in this cortical malformation. We report the first inherited variant of ARF1in a girl with intellectual disability and periventricular nodular heterotopia who inherited the variant from the father with previously undiagnosed single nodular heterotopia and mild clinical expression. Additionally, both patients presented some features suggestive of hypohidrotic ectodermal dysplasia. These clinical features showed similarities to those of three previously reported cases with ARF1missense variants, confirming that haploinsufficiency of this gene causes a recognisable neurological disorder with abnormal neuronal migration and variable clinical expressivity.
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- 2022
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5. Generic acquisition protocol for quantitative MRI of the spinal cord
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Cohen-Adad, Julien, Alonso-Ortiz, Eva, Abramovic, Mihael, Arneitz, Carina, Atcheson, Nicole, Barlow, Laura, Barry, Robert L., Barth, Markus, Battiston, Marco, Büchel, Christian, Budde, Matthew, Callot, Virginie, Combes, Anna J. E., De Leener, Benjamin, Descoteaux, Maxime, de Sousa, Paulo Loureiro, Dostál, Marek, Doyon, Julien, Dvorak, Adam, Eippert, Falk, Epperson, Karla R., Epperson, Kevin S., Freund, Patrick, Finsterbusch, Jürgen, Foias, Alexandru, Fratini, Michela, Fukunaga, Issei, Wheeler-Kingshott, Claudia A. M. Gandini, Germani, Giancarlo, Gilbert, Guillaume, Giove, Federico, Gros, Charley, Grussu, Francesco, Hagiwara, Akifumi, Henry, Pierre-Gilles, Horák, Tomáš, Hori, Masaaki, Joers, James, Kamiya, Kouhei, Karbasforoushan, Haleh, Keřkovský, Miloš, Khatibi, Ali, Kim, Joo-Won, Kinany, Nawal, Kitzler, Hagen, Kolind, Shannon, Kong, Yazhuo, Kudlička, Petr, Kuntke, Paul, Kurniawan, Nyoman D., Kusmia, Slawomir, Labounek, René, Laganà, Maria Marcella, Laule, Cornelia, Law, Christine S., Lenglet, Christophe, Leutritz, Tobias, Liu, Yaou, Llufriu, Sara, Mackey, Sean, Martinez-Heras, Eloy, Mattera, Loan, Nestrasil, Igor, O’Grady, Kristin P., Papinutto, Nico, Papp, Daniel, Pareto, Deborah, Parrish, Todd B., Pichiecchio, Anna, Prados, Ferran, Rovira, Àlex, Ruitenberg, Marc J., Samson, Rebecca S., Savini, Giovanni, Seif, Maryam, Seifert, Alan C., Smith, Alex K., Smith, Seth A., Smith, Zachary A., Solana, Elisabeth, Suzuki, Yuichi, Tackley, George, Tinnermann, Alexandra, Valošek, Jan, Van De Ville, Dimitri, Yiannakas, Marios C., Weber, Kenneth A., Weiskopf, Nikolaus, Wise, Richard G., Wyss, Patrik O., and Xu, Junqian
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Quantitative spinal cord (SC) magnetic resonance imaging (MRI) presents many challenges, including a lack of standardized imaging protocols. Here we present a prospectively harmonized quantitative MRI protocol, which we refer to as the spine genericprotocol, for users of 3T MRI systems from the three main manufacturers: GE, Philips and Siemens. The protocol provides guidance for assessing SC macrostructural and microstructural integrity: T1-weighted and T2-weighted imaging for SC cross-sectional area computation, multi-echo gradient echo for gray matter cross-sectional area, and magnetization transfer and diffusion weighted imaging for assessing white matter microstructure. In a companion paper from the same authors, the spine genericprotocol was used to acquire data across 42 centers in 260 healthy subjects. The key details of the spine genericprotocol are also available in an open-access document that can be found at https://github.com/spine-generic/protocols. The protocol will serve as a starting point for researchers and clinicians implementing new SC imaging initiatives so that, in the future, inclusion of the SC in neuroimaging protocols will be more common. The protocol could be implemented by any trained MR technician or by a researcher/clinician familiar with MRI acquisition.
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- 2021
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6. Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome.
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Masnada, Silvia, Pichiecchio, Anna, Formica, Manuela, Arrigoni, Filippo, Borrelli, Paola, Accorsi, Patrizia, Bonanni, Paolo, Borgatti, Renato, Dalla Bernardina, Bernardo, Danieli, Alberto, Darra, Francesca, Deconinck, Nicolas, De Giorgis, Valentina, Dulac, Olivier, Gataullina, Svetlana, Giordano, Lucio, Guerrini, Renzo, La Briola, Francesca, Mastrangelo, Massimo, and Montomoli, Martino
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- 2021
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7. The epileptology of Aicardi-Goutières syndrome: electro-clinical-radiological findings.
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De Giorgis, Valentina, Varesio, Costanza, Viri, Maurizio, Giordano, Lucio, La Piana, Roberta, Tonduti, Davide, Roncarolo, Federico, Masnada, Silvia, Pichiecchio, Anna, Veggiotti, Pierangelo, Fazzi, Elisa, Orcesi, Simona, and Italian AGS Study Group
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Objective: Although epileptic seizures occur in approximately a quarter of patients with Aicardi-Goutières syndrome (AGS), their phenotypic and electrophysiological characterization remains elusive. The aim of our study was to characterize epilepsy phenotypes and electroencephalographic (EEG) patterns in AGS and look for possible correlations with clinical, genetic and neuroradiological features.Methods: We selected patients with an established AGS diagnosis followed at three Italian reference centers. Medical records, EEGs and MRI/CT findings were reviewed. EEGs were independently and blindly reviewed by three board-certified pediatric epileptologists. Chi square and Fisher's exact tests were used to test associations between epilepsy and EEG feature categories and clinical, radiological and genetic variables.Results: Twenty-seven patients were enrolled. We reviewed 63 EEGs and at least one brain MRI scan per patient. Epilepsy, mainly in the form of epileptic spasms and focal seizures, was present in 37 % of the cohort; mean age at epilepsy onset was 9.5 months (range 1-36). The presence of epilepsy was associated with calcification severity (p = 0.016) and startle reactions (p = 0.05). Organization of EEG electrical activity appeared to be disrupted or markedly disrupted in 73 % of cases. Severe EEG disorganization correlated with microcephaly (p < 0.001) and highly abnormal MRI T2-weighted signal intensity in white matter (p = 0.022). Physiological organization of the EEG was found to be better preserved during sleep (87 %) than wakefulness (38 %). Focal slow activity was recorded in more than one third of cases. Fast activity, either diffuse or with frontal location, was more frequent in the awake state (78 %) than in sleep (50 %). Interictal epileptiform discharges (IEDs) were present in 33 % of awake and 45 % of sleep recordings. IEDs during sleep were associated with a higher risk of a epileptic seizures (p = 0.008).Significance: The hallmarks of EEG recordings in AGS were found to be: disruption of electrical organization, the presence of focal slow and fast activity, and the presence of IEDs, both in patients with and in those without epilepsy. The associations between epilepsy and calcification and between EEG pattern and the finding of a highly abnormal white matter T2 signal intensity suggest a common anatomical correlate. However, the complex anatomical-electroclinical basis of AGS-related epilepsy still requires further elucidation. [ABSTRACT FROM AUTHOR]- Published
- 2021
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8. Can Low‐IntensityPulsed Ultrasound Treat Discrete Pulmonary Lesions in Patients With COVID‐19?
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Prada, Francesco, Cogliati, Chiara, Wu, Maddalena Alessandra, Durando, Giovanni, Montano, Nicola, Gaspare Vetrano, Ignazio, Calliada, Fabrizio, Bastianello, Stefano, Pichiecchio, Anna, and Padilla, Frederic
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- 2021
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9. Neuroradiological manifestations in hospitalized patients with COVID-19: An Italian national multicenter study on behalf of AINR (Associazione Italiana di Neuroradiologia) and SIRM (Società Italiana di Radiologia Medica)
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Anzalone, Nicoletta, Gerevini, Simonetta, del Poggio, Anna, Gaudino, Simona, Causin, Francesco, Politi, Letterio Salvatore, Triulzi, Fabio Maria, Pero, Guglielmo, Pichiecchio, Anna, Bastianello, Stefano, Baruzzi, Fabio Massimo, Bianchini, Elena, Foti, Giovanni, Ricciardi, Giuseppe Kenneth, Sponza, Massimo, Menozzi, Roberto, Cosottini, Mirco, Chirico, Pasquale De, Saba, Luca, and Gasparotti, Roberto
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Purpose This multicentric study aims to characterize and assess the occurrence of neuroradiological findings among patients with SARS-CoV-2 infection during the first Italian wave of the pandemic outbreak.Materials and Methods Patients’ data were collected between May 2020 and June 2020. Clinical and laboratory data, chest imaging, brain CT, and MRI imaging were included. Acquired data were centralized and analyzed in two hospitals: ASST Spedali Civili, Brescia, and IRRCS San Raffaele Research Hospital, Milan, Italy. COVID-19 patients were classified into two different subgroups, vascular and nonvascular. The vascular pattern was further divided into ischemic and hemorrhagic stroke groups.Results Four hundred and fifteen patients from 20 different Italian Centers were enrolled in the study. The most frequent symptom was focal neurological deficit, found in 143 patients (34.5%). The most frequent neuroradiological finding was ischemic stroke in 122 (29.4%) patients. Forty-four (10.6%) patients presented a cerebral hemorrhage. Forty-seven patients had non-stroke neuroimaging lesions (11.3%). The most common was PRES-like syndrome (28%), SWI hypointensities (22%), and encephalitis (19%). The stroke group had higher CAD risk (37.5% vs 20%, p= .016) and higher D-dimer levels (1875 ng/mL vs 451 ng/mL, p< .001) compared to the negative group.Conclusion Our study describes the biggest cohort study in Italy on brain imaging of COVID-19 patients and confirms that COVID-19 patients are at risk of strokes, possibly due to a pro-thrombotic microenvironment. Moreover, apart from stroke, the other neuroradiological patterns described align with the ones reported worldwide.
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- 2024
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10. PC-09.9 - A KINETIC APPROACH TO SEGMENTATION OF BIOMEDICAL IMAGES.
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Cabini, R.F., Pichiecchio, A., Lascialfari, A., Figini, S., and Zanella, M.
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- 2023
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11. Cortical malformations and COL4A1 mutation: Three new cases.
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Vitale, G., Pichiecchio, A., Ormitti, F., Tonduti, D., Asaro, A., Farina, L., Piccolo, B., Percesepe, A., Bastianello, S., and Orcesi, S.
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HUMAN abnormalities ,BRAIN damage - Abstract
The COL4A1 gene (13q34) encodes the α1 chain of type IV collagen, a crucial component of the basal membrane. COL4A1 mutations have been identified as a cause of a multisystem disease. Brain MRI in COL4A1 -mutated patients typically shows vascular abnormalities and white matter lesions. Cortical malformations (specifically schizencephaly) have also recently been described in these patients, suggesting that these, too, could be part of the phenotypic spectrum of COL4A1 mutations. The aim of our work was to retrospectively evaluate COL4A1 -mutated subjects diagnosed at our centers in order to assess the frequency and define the type of cortical malformations encountered in these individuals. We retrospectively reviewed MRI data of 18 carriers of COL4A1 mutations diagnosed in our centers between 2010 and 2016. We identified polymicrogyria in two patients, and schizencephaly in the mother of a further patient. Our findings confirm that cortical malformations should be considered to fall within the phenotypic spectrum of COL4A1 mutations and show that not only schizencephaly but also polymicrogyria can also be found in mutated individuals. Although further studies are needed to clarify the underlying pathogenetic mechanism, independently of this, the timing of the brain damage could be the crucial factor determining the type of lesion. • The phenotypic spectrum of COL4A1 mutations includes cortical malformations. • Polimicrogyria/schizencephaly, should be taken into account. • An acquired encephaloclastic defect mechanism seems most likely. • The lesion type probably depends mainly on the damage timing. [ABSTRACT FROM AUTHOR]
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- 2019
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12. The phenotype of developmental and epileptic encephalopathy.
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Gardella, Elena, Marini, Carla, Trivisano, Marina, Fitzgerald, Mark P., Alber, Michael, Howell, Katherine B., Darra, Francesca, Siliquini, Sabrina, Bölsterli, Bigna K., Masnada, Silva, Pichiecchio, Anna, Johannesen, Katrine M., Jepsen, Birgit, Fontana, Elena, Anibaldi, Gaia, Russo, Silvia, Cogliati, Francesca, Montomoli, Martino, Specchio, Nicola, and Rubboli, Guido
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- 2018
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13. Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome.
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Caporali, Camilla, Signorini, Sabrina, De Giorgis, Valentina, Pichiecchio, Anna, Zuffardi, Orsetta, and Orcesi, Simona
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FOXG1 -related syndrome is a developmental encephalopathy with a high phenotypic variability. A movement disorder presenting at onset is one of the main features, along with microcephaly and severe psychomotor delay without regression. Specific brain MRI findings facilitate the diagnosis. We report three cases of FOXG1 -related syndrome, focusing on clinical onset, brain MRI and evolution over time in order to identify common features despite the three different underlying genotypes (14q12 deletion including the FOXG1 gene, FOXG1 intragenic mutation, 14q12 deletion including PRKD1 and a region regulating FOXG1 expression). In conclusion, we stress the importance of considering genetic syndromes in the differential diagnosis of early-onset movement disorders. [ABSTRACT FROM AUTHOR]
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- 2018
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14. Atypical postictal transient subcortical T2 hypointensity in a newly diagnosed diabetic patient with seizures
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Paoletti, Matteo, Bacila, Ana, Pichiecchio, Anna, Farina, Lisa Maria, Rognone, Elisa, Cremascoli, Riccardo, Fanucchi, Simona, Manni, Raffaele, and Bastianello, Stefano
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Common postictal MRI findings include transient cortical T2 hyperintensity, restricted diffusion, and gyral and/or adjacent leptomeningeal contrast enhancement. In certain uncommon pathological conditions, other signal abnormalities can be present, suggesting a different underlying pathogenic mechanism. We report the case of a 66‐year‐old man, recently diagnosed with diabetes mellitus type 2, presenting with new‐onset visual and auditory hallucinations, “absence” seizures, and repeated peaks of hyperglycaemia without hyperketonaemia or increased serum osmolarity. EEG confirmed epileptic discharges in the right temporal region and MRI showed vast subcortical T2 hypointensity in the right temporal lobe, without any cortical hyperintensity, restricted diffusion, or contrast enhancement. Subcortical signal abnormality and EEG discharges resolved after a month of follow‐up, with a small juxtacortical gliotic focus as a sequela. Peaks in hyperglycaemia have been reported to be responsible for T2 hypointense subcortical abnormalities through a proconvulsant mechanism linked to increased ketone body concentrations. Hyperosmolarity and hyperketonaemia were not evident in this case, however, transient accumulation of free radicals that alter the intercellular space can be considered the presumable cause of this finding. In summary, it is important to consider any unusual findings on postictal MRI in order to avoid errors in interpretation.
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- 2018
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15. MRI in sarcoglycanopathies: a large international cohort study
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Tasca, Giorgio, Monforte, Mauro, Díaz-Manera, Jordi, Brisca, Giacomo, Semplicini, Claudio, D’Amico, Adele, Fattori, Fabiana, Pichiecchio, Anna, Berardinelli, Angela, Maggi, Lorenzo, Maccagnano, Elio, Løkken, Nicoline, Marini-Bettolo, Chiara, Munell, Francina, Sanchez, Angel, Alshaikh, Nahla, Voermans, Nicol C, Dastgir, Jahannaz, Vlodavets, Dmitry, Haberlovíá, Jana, Magnano, Gianmichele, Walter, Maggie C, Quijano-Roy, Susana, Carlier, Robert-Yves, van Engelen, Baziel G M, Vissing, John, Straub, Volker, Bonnemann, Carsten G, Mercuri, Eugenio, Muntoni, Francesco, Pegoraro, Elena, Bertini, Enrico, Udd, Bjarne, Ricci, Enzo, and Bruno, Claudio
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ObjectivesTo characterise the pattern and spectrum of involvement on muscle MRI in a large cohort of patients with sarcoglycanopathies, which are limb-girdle muscular dystrophies (LGMD2C–2F) caused by mutations in one of the four genes coding for muscle sarcoglycans.MethodsLower limb MRI scans of patients with LGMD2C–2F, ranging from severe childhood variants to milder adult-onset forms, were collected in 17 neuromuscular referral centres in Europe and USA. Muscle involvement was evaluated semiquantitatively on T1-weighted images according to a visual score, and the global pattern was assessed as well.ResultsScans from 69 patients were examined (38 LGMD2D, 18 LGMD2C, 12 LGMD2E and 1 LGMD2F). A common pattern of involvement was found in all the analysed scans irrespective of the mutated gene. The most and earliest affected muscles were the thigh adductors, glutei and posterior thigh groups, while lower leg muscles were relatively spared even in advanced disease. A proximodistal gradient of involvement of vasti muscles was a consistent finding in these patients, including the most severe ones.ConclusionsMuscle involvement on MRI is consistent in patients with LGMD2C–F and can be helpful in distinguishing sarcoglycanopathies from other LGMDs or dystrophinopathies, which represent the most common differential diagnoses. Our data provide evidence about selective susceptibility or resistance to degeneration of specific muscles when one of the sarcoglycans is deficient, as well as preliminary information about progressive involvement of the different muscles over time.
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- 2018
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16. Efficacy of rituximab as third-line therapy in combined central and peripheral demyelination
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Savasta, Salvatore, Foiadelli, Thomas, Vegezzi, Elisa, Cortese, Andrea, Lozza, Alessandro, Pichiecchio, Anna, Franciotta, Diego, and Marchioni, Enrico
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Combined central and peripheral demyelination (CCPD) is a rare autoimmune demyelinating disorder affecting both CNS and peripheral nervous system (PNS). Prevalence is probably underestimated, since in relapsing-remitting multiple sclerosis (MS)–like forms the PNS involvement is frequently undetected. The pathogenesis is largely unknown, prognosis is poor, and treatment options, including steroids and IV immunoglobulins (IVIg), are limited and almost ineffective.1–3
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- 2017
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17. Nerve Fascicles and Epineurium Volume Segmentation of Peripheral Nerve Using Magnetic Resonance Micro-neurography.
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Felisaz, Paolo Florent, Balducci, Francesco, Gitto, Salvatore, Carne, Irene, Montagna, Stefano, De Icco, Roberto, Pichiecchio, Anna, Baldi, Maurizia, Calliada, Fabrizio, and Bastianello, Stefano
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Rationale and Objectives: The aims of this study were to propose a semiautomated technique to segment and measure the volume of different nerve components of the tibial nerve, such as the nerve fascicles and the epineurium, based on magnetic resonance microneurography and a segmentation tool derived from brain imaging; and to assess the reliability of this method by measuring interobserver and intraobserver agreement.Materials and Methods: The tibial nerve of 20 healthy volunteers (age range = 23-69; mean = 47; standard deviation = 15) was investigated at the ankle level. High-resolution images were obtained through tailored microneurographic sequences, covering 28 mm of nerve length. Two operators manually segmented the nerve using the in-phase image. This region of interest was used to mask the nerve in the water image, and two-class segmentation was performed to measure the fascicular volume, epineurial volume, nerve volume, and fascicular to nerve volume ratio (FNR). Interobserver and intraobserver agreements were calculated.Results: The nerve structure was clearly visualized with distinction of the fascicles and the epineurium. Segmentation provided absolute volumes for nerve volume, fascicular volume, and epineurial volume. The mean FNR resulted in 0.69 with a standard deviation of 0.04 and appeared to be not correlated with age and sex. Interobserver and intraobserver agreements were excellent with alpha values >0.9 for each parameter investigated, with measurements free of systematic errors at the Bland-Altman analysis.Conclusions: We concluded that the method is reproducible and the parameter FNR is a novel feature that may help in the diagnosis of neuropathies detecting changes in volume of the fascicles or the epineurium. [ABSTRACT FROM AUTHOR]- Published
- 2016
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18. TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
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Tonduti, Davide, Aiello, Chiara, Renaldo, Florence, Dorboz, Imen, Saaman, Simon, Rodriguez, Diana, Fettah, Houda, Elmaleh, Monique, Biancheri, Roberta, Barresi, Sabina, Boccone, Loredana, Orcesi, Simona, Pichiecchio, Anna, Zangaglia, Roberta, Maurey, Hélène, Rossi, Andrea, Boespflug-Tanguy, Odile, and Bertini, Enrico
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Background Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) was first described in 2002. After the recent identification of TUBB4A mutation as the genetic basis of the disease, the clinical and neuroimaging phenotype related to TUBB4A mutations expanded, ranging from primary dystonia type 4 with normal MRI to severe H-ABC cases. Patients and methods The study included patients referred to us for an unclassified hypomyelinating leukodystrophy. We selected patients with deleterious heterozygous TUBB4A mutations. Molecular analysis of TUBB4A was performed on genomic DNA extracted from peripheral blood. Results The series included 12 patients (5 females and 7 males). Five patients carried the common mutation c.745G > A (p.Asp249Asn), while the remaining harbored different mutations. Three new mutations were found in 5 patients. Clinical and neuroimaging observations are described. A clear correlation between the clinical presentation and the genotype seems to be absent in our group of 12 patients. Conclusions TUBB4A -mutated patients manifest a comparable clinical and neuroimaging picture but they can differ from each other in terms of rate of disease progression. Extrapyramidal signs can be absent in the first stages of the disease, and a careful evaluation of MRI is fundamental to obtain the final diagnosis. From a therapeutic perspective a trial with l -dopa should be considered in all patients presenting extrapyramidal symptoms. [ABSTRACT FROM AUTHOR]
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- 2016
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19. “Acquired” Dandy–Walker malformation and cerebellar hemorrhage: Usefulness of serial MRI.
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Pichiecchio, Anna, Decio, Alice, Di Perri, Carol, Parazzini, Cecilia, Rossi, Andrea, and Signorini, Sabrina
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Background/purpose Neuroimaging plays a fundamental role in the diagnosis of Dandy Walker malformation (DWM), a posterior fossa anomaly that is usually associated with genetic abnormalities, but may rarely be ascribed to acquired causes. Here, we report the clinical history and neuroimaging studies of a child with a complex cardiac malformation, developmental delay, and oculomotor anomalies whose neuroimaging findings were consistent with an acquired form of DWM. Methods/results Fetal MRI at gestational weeks 27 and 31 showed cerebellar and vermis hypoplasia and fourth ventricle enlargement, together with hemosiderin deposits on the cerebellar hemispheric surface, but without significant vermian rotation. Postnatal MRIs at 5 days and 13 months revealed progressive counter-clockwise rotation of the hypoplastic cerebellar vermis with cystic dilation of the fourth ventricle, eventually leading to a full-blown DWM. Conclusion This case strengthens the opinion that DWM is a heterogeneous condition, and may support the hypothesis that acquired meningeal abnormalities in the form of cortico-pial hemosiderosis may play a role in the development of DWM. This case also demonstrates that serial neuroimaging plays a key role in the correct diagnosis of posterior fossa malformations, whose prognosis is difficult to establish on second trimester fetal MRI and requires longer clinical follow-up. [ABSTRACT FROM AUTHOR]
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- 2016
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20. Limbic hyperconnectivity in the vegetative state.
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Di Perri, Carol, Bastianello, Stefano, Bartsch, Andreas J, Pistarini, Caterina, Maggioni, Giorgio, Magrassi, Lorenzo, Imberti, Roberto, Pichiecchio, Anna, Vitali, Paolo, Laureys, Steven, and Di Salle, Francesco
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- 2013
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21. Limbic hyperconnectivity in the vegetative state.
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Di Perri, Carol, Bastianello, Stefano, Bartsch, Andreas J., Pistarini, Caterina, Maggioni, Giorgio, Magrassi, Lorenzo, Imberti, Roberto, Pichiecchio, Anna, Vitali, Paolo, Laureys, Steven, and Di Salle, Francesco
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- 2013
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22. Good outcome in adult‐onset Rasmussen's encephalitis syndrome: is recovery possible?
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Poloni, Tino Emanuele, Galli, Alberto, Pichiecchio, Anna, di Lodovico, Laura, and Ceroni, Mauro
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A healthy 29‐year‐old man suffered from adult‐onset epilepsy, characterized by polymorphic progressive seizures resistant to AEDs, leading to unilateral cortical deficits and atrophy of the left hemisphere. The disorder satisfied the clinical, EEG, and imaging criteria for a diagnosis of Rasmussen's encephalitis. During the acute phase of the disease, intrathecal synthesis of specific anti‐CMV IgG was identified. This case was characterized by a very mild course and remission of seizures following a treatment with high‐dose intravenous polyvalent immunoglobulins containing a high anti‐CMV titre. The patient remained symptomless for more than 15 years from clinical onset and more than eight years after the discontinuation of immunological therapy. In agreement with a recent report, this case confirms that adult‐onset Rasmussen's encephalitis syndrome may occur with a very mild clinical picture and persistent remission. In this case, the specific index for intrathecal production of anti‐CMV antibodies suggested possible CMV involvement, indicating specific immuno‐therapy as a treatment choice.
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- 2015
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23. Postinfectious neurologic syndromes: a prospective cohort study.
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Marchioni, Enrico, Ravaglia, Sabrina, Montomoli, Cristina, Tavazzi, Eleonora, Minoli, Lorenzo, Baldanti, Fausto, Furione, Milena, Alfonsi, Enrico, Bergamaschi, Roberto, Romani, Alfredo, Piccolo, Laura, Zardini, Elisabetta, Bastianello, Stefano, Pichiecchio, Anna, Ferrante, Pasquale, Delbue, Serena, Franciotta, Diego, Bono, Giorgio, and Ceroni, Mauro
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- 2013
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24. Postinfectious neurologic syndromes.
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Marchioni, Enrico, Ravaglia, Sabrina, Montomoli, Cristina, Tavazzi, Eleonora, Minoli, Lorenzo, Baldanti, Fausto, Furione, Milena, Alfonsi, Enrico, Bergamaschi, Roberto, Romani, Alfredo, Piccolo, Laura, Zardini, Elisabetta, Bastianello, Stefano, Pichiecchio, Anna, Ferrante, Pasquale, Delbue, Serena, Franciotta, Diego, Bono, Giorgio, and Ceroni, Mauro
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- 2013
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25. Magnetic resonance spectroscopy in the evaluation of treatment efficacy in unipolar major depressive disorder: a review of the literature.
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Caverzasi, Eduardo, Pichiecchio, Anna, Umberto^Poloni, Guy, Calligaro, Alessandro, Pasin, Moreno, Palesi, Fulvia, Castellazzi, Gloria, Pasquini, Massimo, Biondi, Massimo, Barale, Francesco, and Bastianello, Stefano
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- 2012
26. Congenital muscular dystrophies with cognitive impairment. A population study.
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Messina S, Bruno C, Moroni I, Pegoraro E, D'Amico A, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Farina L, Minetti C, Moggio M, Mongini T, Mottarelli E, Pane M, Pantaleoni C, Pichiecchio A, Pini A, Ricci E, and Saredi S
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- 2010
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27. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
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Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, and Pini A
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- 2009
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28. Lafora disease: Spectroscopy study correlated with neuropsychological findings.
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Pichiecchio, Anna, Veggiotti, Pierangelo, Cardinali, Simonetta, Longaretti, Francesca, Poloni, Guy U., and Uggetti, Carla
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METABOLISM ,DISEASES ,PROTON magnetic resonance spectroscopy ,COGNITION disorders ,COGNITIVE ability - Abstract
Abstract: Purpose: To evaluate the metabolic changes both in grey and white matter in Lafora disease using proton magnetic resonance spectroscopy and to determine the possible correlation with the pattern of cognitive impairment. Methods: Five patients with Lafora disease and six healthy controls were included in the study. Patients underwent at the same time-point neuropsychological testing and
1 [H]MRS, using PRESS sequences (TE=136 and 25ms) positioned in the frontal and posterior cingulate gyrus cortexes and in the adjacent frontal and parietal white matter. Results: Neuropsychological testing showed in all patients a prevalent involvement of performance abilities—with partial sparing of verbal competences—and of executive functions, suggesting a major involvement of frontal areas. Analysis of1 [H]MRS showed a statistically significant reduction in NAA/mI and NAA/Cr in grey matter of patients compared to controls, more significant in frontal regions. In white matter, a significant reduction of NAA/mI ratio was observed both in the frontal and parietal regions, associated with a reduction of the NAA/Cr only in the frontal white matter. NAA/mI was found to be the most statistically significant altered parameter in all regions studied and the only significantly altered ratio in strong correlation with all sets of neuropsychological parameters. Conclusions: Our study confirmed the predominant metabolic damage in the frontal cortex, also demonstrating NAA/mI ratio to be the most sensitive parameter to detect metabolic brain changes in Lafora disease; moreover, it evidenced frontal white matter spectroscopic changes. Both spectroscopy values and clinical features of cognitive impairment showed a prevalent frontal impairment. [Copyright &y& Elsevier]- Published
- 2008
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29. Limbic hyperconnectivity in the vegetative state
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Di Perri, Carol, Bastianello, Stefano, Bartsch, Andreas J., Pistarini, Caterina, Maggioni, Giorgio, Magrassi, Lorenzo, Imberti, Roberto, Pichiecchio, Anna, Vitali, Paolo, Laureys, Steven, and Di Salle, Francesco
- Abstract
To investigate functional connectivity between the default mode network (DMN) and other networks in disorders of consciousness.
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- 2013
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30. Postinfectious neurologic syndromes
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Marchioni, Enrico, Ravaglia, Sabrina, Montomoli, Cristina, Tavazzi, Eleonora, Minoli, Lorenzo, Baldanti, Fausto, Furione, Milena, Alfonsi, Enrico, Bergamaschi, Roberto, Romani, Alfredo, Piccolo, Laura, Zardini, Elisabetta, Bastianello, Stefano, Pichiecchio, Anna, Ferrante, Pasquale, Delbue, Serena, Franciotta, Diego, Bono, Giorgio, and Ceroni, Mauro
- Abstract
Postinfectious neurologic syndromes (PINSs) of the CNS include heterogeneous disorders, sometimes relapsing. In this study, we aimed to a) describe the spectrum of PINSs; b) define predictors of outcome in PINSs; and c) assess the clinicalparaclinical features that help differentiate PINSs from multiple sclerosis (MS).
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- 2013
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31. Congenital muscular dystrophies with cognitive impairment
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Messina, S., Bruno, C., Moroni, I., Pegoraro, E., D'Amico, A., Biancheri, R., Berardinelli, A., Boffi, P., Cassandrini, D., Farina, L., Minetti, C., Moggio, M., Mongini, T., Mottarelli, E., Pane, M., Pantaleoni, C., Pichiecchio, A., Pini, A., Ricci, E., Saredi, S., Sframeli, M., Tortorella, G., Toscano, A., Trevisan, C.P., Uggetti, C., Vasco, G., Comi, G.P., Santorelli, F.M., Bertini, E., and Mercuri, E.
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Cognitive impairment has been reported in a significant proportion of patients with congenital muscular dystrophies (CMD), generally associated with brain changes.
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- 2010
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32. HIV-Related Acute Inflammatory Leukoencephalopathy of Undetermined Origin: Review of the Literature
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Tavazzi, E., Bargiggia, V., Pichiecchio, A, Delbue, S., Maserati, R., Bastianello, S., Ferrante, P., Minoli, L., Ricevuti, G., Ceroni, M., and Marchioni, E.
- Abstract
HIV-related acute inflammatory leukoencephalopathy of undetermined origin (AIL) has been anecdotally described in literature as being responsible for cognitive and motor deficits. We carried out a review of all the cases of AIL published in literature. Articles were selected according to 2 criteria: acute onset of symptoms; undetermined aetiology and non-fulfilment of multiple sclerosis diagnostic criteria. They were then analyzed in terms of clinical, biological and instrumental features, therapy, diagnostic classification and prognosis. Although rare (21 patients out of about 4,000 publications), AIL is of particular interest, as the comprehension of its mechanisms could give some insight into the direct and immune-mediated actions of HIV within the brain. All the reported patients share several clinical, histopathological, radiological and CSF features, leading to hypothesize a similar aetiopathogenetic mechanism. Conversely, we observed a high heterogeneity of treatment and diagnostic classification, which could have conditioned the broad prognostic variability. The absence of a defined aetiology leads to consider these forms as a particular subgroup of “not determined leucoencephalopathies” (NDLE), with both MRI and histological pattern dominated by inflammation as distinctive feature.
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- 2010
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33. Congenital muscular dystrophies with defective glycosylation of dystroglycan
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Mercuri, E, Messina, S, Bruno, C, Mora, M, Pegoraro, E, Comi, G P., D'Amico, A, Aiello, C, Biancheri, R, Berardinelli, A, Boffi, P, Cassandrini, D, Laverda, A, Moggio, M, Morandi, L, Moroni, I, Pane, M, Pezzani, R, Pichiecchio, A, Pini, A, Minetti, C, Mongini, T, Mottarelli, E, Ricci, E, Ruggieri, A, Saredi, S, Scuderi, C, Tessa, A, Toscano, A, Tortorella, G, Trevisan, C P., Uggetti, C, Vasco, G, Santorelli, F M., and Bertini, E
- Abstract
Congenital muscular dystrophies (CMD) with reduced glycosylation of alpha-dystroglycan (-DG) are a heterogeneous group of conditions associated with mutations in six genes encoding proven or putative glycosyltransferases.
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- 2009
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34. Mutation in RNF170causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic
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Cortese, Andrea, Callegari, Ilaria, Currò, Riccardo, Vegezzi, Elisa, Colnaghi, Silvia, Versino, Maurizio, Alfonsi, Enrico, Cosentino, Giuseppe, Valente, Enzamaria, Gana, Simone, Tassorelli, Cristina, Pichiecchio, Anna, Rossor, Alexander M, Bugiardini, Enrico, Biroli, Antonio, Di Capua, Daniela, Houlden, Henry, and Reilly, Mary M
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- 2020
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35. Brain White Matter Impairment in Congenital Adrenal Hyperplasia
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Bergamaschi, Roberto, Livieri, Chiara, Uggetti, Carla, Candeloro, Elisa, Egitto, Maria Grazia, Pichiecchio, Anna, Cosi, Vittorio, and Bastianello, Stefano
- Abstract
BACKGROUND Congenital adrenal hyperplasia (CAH) is an inherited recessive disorder of adrenal steroidogenesis. Past reports suggested that brain white matter could be involved in CAH. OBJECTIVE To detect the presence, and possible changes over time, of brain white matter abnormalities in patients with CAH. DESIGN Neurological examination and brain magnetic resonance imaging (MRI) that were repeated in 12 patients after a mean interval of 11 years. SETTING Pavia, northern Italy. PATIENTS Twenty-two patients with CAH. MAIN OUTCOME MEASURES Evaluation of clinical neurological findings and brain MRI T2-weighted images. RESULTS Ten (45%) of 22 patients with CAH had white matter abnormalities (diffuse in 4 cases, focal in 3 cases, and both diffuse and focal in 3 cases) on MRI. The MRI findings never changed over repeated assessments. CONCLUSIONS Subclinical brain white matter involvement is frequent in CAH. This might be due to hormonal imbalance during brain development or corticosteroid treatments. Our study findings indicate that a relationship with demyelinating diseases can also be suggested. Diagnosis of CAH should be suspected in young subjects with brain MRI white matter abnormalities that are not otherwise explicable.Arch Neurol. 2006;63:413-416 --
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- 2006
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36. Spectrum of Brain Changes in Patients With Congenital Muscular Dystrophy and FKRP Gene Mutations
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Mercuri, Eugenio, Topaloglu, Haluk, Brockington, Martin, Berardinelli, Angela, Pichiecchio, Anna, Santorelli, Filippo, Rutherford, Mary, Talim, Beril, Ricci, Enzo, Voit, Thomas, and Muntoni, Francesco
- Abstract
OBJECTIVES To report the spectrum of brain magnetic resonance imaging findings in 13 patients with congenital muscular dystrophy and FKRP gene mutations and to explore possible genotype-phenotype correlations. DESIGN We retrospectively reviewed brain magnetic resonance imaging in patients with congenital muscular dystrophy and FKRP gene mutations. PATIENTS Thirteen patients with congenital muscular dystrophy and mutations in the FKRP gene. RESULTS Five of the 13 patients had the typical phenotype originally described for congenital muscular dystrophy (MDC1C) with normal intelligence and normal brain magnetic resonance imaging while 3 other patients had isolated cerebellar cysts and mental retardation without any other sign of posterior fossa of supratentorial abnormalities. In the remaining 5 patients cerebellar cysts were associated with structural brain changes involving the posterior fossa and the cortex, ranging from focal unilateral periventricular nodular heterotopia to marked cerebellar dysplasia and pontine hypoplasia. In 2 of these 5 patients the severity and distribution of changes resembled muscle-eye-brain disease in 1 patient who had mild Walker-Warburg syndrome. The distribution of FKRP gene mutations identified in this group of patients did not reveal any obvious association with the severity of central nervous system involvement. CONCLUSIONS The severity of central nervous system involvement observed in our patients in contrast broadly reflected the severity of the disruption of α-dystroglycan glycosylation. In particular, dystroglycan expression was almost absent in the patients with muscle-eye-brain diseaselike phenotype and less severely reduced in the patients with congenital muscular dystrophy (MDC1C) with or without cerebellar cysts. This study further highlights the central role that dystroglycan has in neuronal migration.Arch Neurol. 2006; 63: 251-257--
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- 2006
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37. LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy
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Prandini, P, Berardinelli, A, Fanin, M, Morello, F, Zardini, E, Pichiecchio, A, Uggetti, C, Lanzi, G, Angelini, C, and Pegoraro, E
- Abstract
The authors report a girl with autosomal recessive congenital muscular dystrophy linked to chromosome 6 (MDC1A) who carries a homozygous out-of-frame deletion in exon 56 of the LAMA2gene but has a mild phenotype. She is still ambulant at age 13 years, shows white matter abnormalities on MRI, and traces of laminin α2 in her muscle biopsy with one of three antibodies used. This patient suggests that modulating factors can be associated with a less severe clinical phenotype in MDC1A.
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- 2004
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38. La Risonanza Magnetica muscolare nelle malattie neuromuscolari
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Pichiecchio, A., Cini, C., Egitto, M.G., Berardinelli, A., Mercuri, E., and Uggetti, C.
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We describe the main magnetic resonance features of neuromuscular diseases based on a series of 345 patients undergoing muscle MR scans. The study aimed to establish the use of this method in the diagnosis of neuromuscular disease, namely its ability to distinguish neurogenic forms from primary myopathy by analysing the location, extension and distribution of structural changes. A selective muscle involvement was encountered in some myogenic diseases and can be considered a characteristic feature of different diseases and hence an important aid in diagnosis. We propose that MR scanning be included among the instrumental tests required in the diagnosis of neuromuscular disease.
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- 2003
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39. Il disturbo visuopercettivo nei bambini affetti da leucomalacia periventricolare: Studio neuropsicologico e neuroradiologico
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Uggetti, C., Bova, S., Egitto, M.G., Pichiecchio, A., Todeschini, A., Zappoli, F., Marinucci, I., Fazzi, E., and Lanzi, G
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- 2001
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40. Subcortical Dementia Associated with Striking Enlargement of the Virchow-Robin Spaces and Transneural Degeneration of the Left Mammillo-Thalamic Tract
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Uggetti, Carla, Egitto, Maria Grazia, Pichiecchio, Anna, Sinforiani, Elena, Bevilacqua, Maria Stella, Cavallini, Anna, and Micieli, Giuseppe
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We report a case of subcortical dementia in a 68-year-old woman. MR examination of the patient’s brain revealed two types of alterations as a possible cause of the dementia, both anomalous in respect of their entity and incidence: the first was a striking enlargement of the Virchow-Robin spaces, and the second an anterograde transneural degeneration of the left mammillo-thalamic tract and mammillary body secondary to a lacunar infarction of the ipsilateral anterior thalamus.
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- 2001
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41. Acute myelopathies associated to SARS-CoV-2 infection: Viral or immune-mediated damage?
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Canavero, Isabella, Valentino, Francesca, Colombo, Elena, Franciotta, Diego, Ferrandi, Delfina, Mussa, Marco, Schizzi, Rodolfo, Marinou, Kalliopi, Zanferrari, Carla, Businaro, Pietro, Ravaglia, Sabrina, Prunetti, Paolo, Cosentino, Giuseppe, Farina, Lisa Maria, Rognone, Elisa, Pichiecchio, Anna, and Micieli, Giuseppe
- Published
- 2021
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42. Attention deficit hyperactivity disorder (ADHD): from a childhood neuropsychiatric disorder to an adult condition.
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Vadalà, Rita, Giugni, Elisabetta, Pichiecchio, Anna, Balottin, Umberto, and Bastianello, Stefano
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- 2011
43. Studio RM dell'encefalo di trentacinque bambini affetti da amaurosi congenita di Leber
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Uggetti, C., Fazzi, E., Signorini, S., Egitto, M.G., Pichiecchio, A., Zappoli, F., and Lanzi, G.
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There are few literature reports of MR study in children with Leber's congenital amaurosis, a severe early onset autosomal recessive retinal dystrophy. We describe the clinical and neuroradiological findings in 35 patients. Of these, 22 had a normal brain MR scan, four showed mild dilatation of the cortical sulci, two had mild optic-chiasmatic thinning, three showed aspecific white matter changes not involving the primary visual pathway and four had “molar tooth” mesencephalic malformation. Our series confirms literature findings of normal signal and morphology of the primary optic pathway. Posterior cranial fossa abnormalities, defined as rhombencephaloschisis, was associated with a clinical picture different from that of the other patients. This abnormality is encountered in different malformations associating cerebellar, ocular and renal abnormalities. MR brain study in children with Leber's congenital amaurosis is recommended not only to assess the visual pathways, but also to analyse the posterior cranial fossa and cerebellum.
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- 2003
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44. Parry–Romberg syndrome with migraine and intracranial aneurysm
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Pichiecchio, Anna, Uggetti, Carla, Grazia Egitto, Maria, and Zappoli, Federico
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Parry–Romberg syndrome or progressive facial hemiatrophy (PFH) is a rare disease of unknown etiology characterized by atrophy of the skin and subcutaneous tissue on one side of the face. The authors present the case of a 32-year-old woman with PFH who had migraine and an intracranial aneurysm. The findings support the hypothesis that the disease could be related to a neural crest migration disorder, from which both fronto-nasal mass and cranial vessels take origin.
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- 2002
45. Long-Term Follow-Up of Two Siblings with a Non-Classic Infantile Variant Form of Pompe Disease
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Taurisano, R., D'Amico, A., Colafati, G.S., Pichiecchio, A., Catteruccia, M., Bertini, E., Dionisi-Vici, C., and Deodato, F.
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- 2015
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46. Varicella zoster virus-associated polyradiculoneuritis.
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Cortese A, Tavazzi E, Delbue S, Alfonsi E, Pichiecchio A, Ceroni M, Ferrante P, and Marchioni E
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- 2009
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47. Varicella zoster virus–associated polyradiculoneuritis
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Cortese, A, Tavazzi, E, Delbue, S, Alfonsi, E, Pichiecchio, A, Ceroni, M, Ferrante, P, and Marchioni, E
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- 2009
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