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347 results on '"Galassi, Giuliana"'

5. Electrodiagnostic subtyping in Guillain–Barré syndrome patients in the International Guillain–Barré Outcome Study.

Author

Arends, Samuel, Drenthen, Judith, de Koning, Laura, van den Bergh, Peter, Hadden, Robert D. M., Kuwabara, Satoshi, Reisin, Ricardo C., Shahrizaila, Nortina, Ajroud‐Driss, Senda, Antonini, Giovanni, Attarian, Shahram, Balducci, Claudia, Bertorini, Tulio, Brannagan, Thomas H., Cavaletti, Guido, Chao, Chi‐Chao, Chavada, Govind, Dillmann, Klaus‐Ulrich, Dimachkie, Mazen M., and Galassi, Giuliana

Abstract

Background and purpose: Various electrodiagnostic criteria have been developed in Guillain–Barré syndrome (GBS). Their performance in a broad representation of GBS patients has not been evaluated. Motor conduction data from the International GBS Outcome Study (IGOS) cohort were used to compare two widely used criterion sets and relate these to diagnostic amyotrophic lateral sclerosis criteria. Methods: From the first 1500 patients in IGOS, nerve conduction studies from 1137 (75.8%) were available for the current study. These patients were classified according to nerve conduction studies criteria proposed by Hadden and Rajabally. Results: Of the 1137 studies, 68.3% (N = 777) were classified identically according to criteria by Hadden and Rajabally: 111 (9.8%) axonal, 366 (32.2%) demyelinating, 195 (17.2%) equivocal, 35 (3.1%) inexcitable and 70 (6.2%) normal. Thus, 360 studies (31.7%) were classified differently. The areas of differences were as follows: 155 studies (13.6%) classified as demyelinating by Hadden and axonal by Rajabally; 122 studies (10.7%) classified as demyelinating by Hadden and equivocal by Rajabally; and 75 studies (6.6%) classified as equivocal by Hadden and axonal by Rajabally. Due to more strictly defined cutoffs fewer patients fulfilled demyelinating criteria by Rajabally than by Hadden, making more patients eligible for axonal or equivocal classification by Rajabally. In 234 (68.6%) axonal studies by Rajabally the revised El Escorial (amyotrophic lateral sclerosis) criteria were fulfilled; in axonal cases by Hadden this was 1.8%. Conclusions and discussion: This study shows that electrodiagnosis in GBS is dependent on the criterion set utilized, both of which are based on expert opinion. Reappraisal of electrodiagnostic subtyping in GBS is warranted. [ABSTRACT FROM AUTHOR]

Published
2024
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6. Varicella zoster virus reactivation antedating ipsilateral brainstem stroke

Author

Galassi, Giuliana, Genovese, Maurilio, Meacci, Marisa, and Malagoli, Marcella

Subjects
varicella zoster reactivation, viral spread, pontine stroke, cervical rash, ophthalmic zoster, vertebrobasilar circulation
Abstract

itor Title: Varicella zoster virus reactivation antedating ipsilateral brainstem stroke Authors: Giuliana Galassi1, Maurilio Genovese2, Marisa Meacci3, Marcella Malagoli2 Affiliations: 1Department of Biomedical, Metabolic, Neural Sciences, University Hospital of Modena, Italy, 2Neuroradiology Service, University Hospital of Modena, Italy, 3Department of Laboratory Medicine and Patholgy, Microbiology and Virology Unit, University Hospital of Modena, Italy Corresponding Author: Giuliana Galassi, MD, Department of Biomedical, Metabolic, Neural Sciences, University Hospital of Modena, Via P. Giardini 1455, Modena, Italy, Tel: 39-3497325802, Email: giulianagalassi46@gmail.com Abstract: Varicella zoster virus (VZV) infection and reactivation are associated with a number of neurologic conditions. Unifocal large vessel infarcts may follow zoster in the trigeminal or cervical distribution as a result of transaxonal transport of virus from trigeminal or cervical afferent fibers that innervate vessels. Ophthalmic zoster (HZO) might cause ophthalmoplegic syndromes, with secondary optic neuritis. Mechanisms include local orbital muscle inflammation and, viral spread from the ophthalmic branch of the fifth nerve with associated vasculopathy. A 72-year-old man developed a vesicular rash in the territory of C5-T5-6. Within four weeks, the patient developed headache, dysphagia, left facial and extremity ataxic weakness. Magnetic resonance imaging (MRI) revealed a right pontine infarction. A 66-year-old woman presented with right-sided painfull HZO. One week later she developed complete external ophthalmoplegia and blurred vision. MRI showed ill-defined signal alteration in the retrobulbar tissue. Three weeks later, the patient was admitted because of dysarthria, deviated tongue, left-sided limb weakness, and tactile hypoesthesia. Spinal fluid contained 23 lymphocytes/mm3 and increased protein. The serum contained antibodies to VZV IgG and IgM in both cases. The patients received intravenously acyclovir with improvement. This report confirms unusual occurrence of ipsilateral brainstem stroke after VZV reactivation in immunocompetent subjects.

Published
2018

11. Predicting Outcome in Guillain-Barré Syndrome: International Validation of the Modified Erasmus GBS Outcome Score

Author

Doets, Alex Y, Lingsma, Hester F, Walgaard, Christa, Islam, Badrul, Papri, Nowshin, Davidson, Amy, Yamagishi, Yuko, Kusunoki, Susumu, Dimachkie, Mazen M, Waheed, Waqar, Kolb, Noah, Islam, Zhahirul, Mohammad, Quazi Deen, Harbo, Thomas, Sindrup, Soren H, Chavada, Govindsinh, Willison, Hugh J, Casasnovas, Carlos, Bateman, Kathleen, Miller, James AL, van den Berg, Bianca, Verboon, Christine, Roodbol, Joyce, Leonhard, Sonja E, Benedetti, Luana, Kuwabara, Satoshi, Van den Bergh, Peter, Monges, Soledad, Marfia, Girolama A, Shahrizaila, Nortina, Galassi, Giuliana, Péréon, Yann, Bürmann, Jan, Kuitwaard, Krista, Kleyweg, Ruud P, Marchesoni, Cintia, Sedano Tous, María J, Querol, Luis, Illa, Isabel, Wang, Yuzhong, Nobile-Orazio, Eduardo, Rinaldi, Simon, Schenone, Angelo, Pardo, Julio, Vermeij, Frederique H, Lehmann, Helmar C, Granit, Volkan, Cavaletti, Guido, Gutiérrez-Gutiérrez, Gerardo, Barroso, Fabio A, Visser, Leo H, Katzberg, Hans D, Dardiotis, Efthimios, Attarian, Shahram, van der Kooi, Anneke J, Eftimov, Filip, Wirtz, Paul W, Samijn, Johnny PA, Gilhuis, H Jacobus, Hadden, Robert DM, Holt, James KL, Sheikh, Kazim A, Karafiath, Summer, Vytopil, Michal, Antonini, Giovanni, Feasby, Thomas E, Faber, Catharina G, Gijsbers, Cees J, Busby, Mark, Roberts, Rhys C, Silvestri, Nicholas J, Fazio, Raffaella, van Dijk, Gert W, Garssen, Marcel PJ, Straathof, Chiara SM, Gorson, Kenneth C, and Jacobs, Bart C

Published
2021
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15. CSF Findings in Relation to Clinical Characteristics, Subtype, and Disease Course in Patients With Guillain-Barré Syndrome

Author

Al-Hakem, Helle, Doets, Alex Y, Stino, Amro Maher, Zivkovic, Sasha A, Andersen, Henning, Willison, Hugh J, Cornblath, David R, Gorson, Kenneth C, Islam, Zhahirul, Mohammad, Quazi Deen, Sindrup, Søren Hein, Kusunoki, Susumu, Davidson, Amy, Casasnovas, Carlos, Bateman, Kathleen, Miller, James A L, van den Berg, Bianca, Verboon, Christine, Roodbol, Joyce, Leonhard, Sonja E, Arends, Samuel, Luijten, Linda W G, Benedetti, Luana, Kuwabara, Satoshi, Van den Bergh, Peter, Monges, Soledad, Marfia, Girolama A, Shahrizaila, Nortina, Galassi, Giuliana, Pereon, Yann, Bürmann, Jan, Kuitwaard, Krista, Kleyweg, Ruud P, Marchesoni, Cintia, Sedano Tous, María J, Querol, Luis, Martín-Aguilar, Lorena, Wang, Yuzhong, Nobile-Orazio, Eduardo, Rinaldi, Simon, Schenone, Angelo, Pardo, Julio, Vermeij, Frederique H, Waheed, Waqar, Lehmann, Helmar C, Granit, Volkan, Stein, Beth, Samijn, Johnny P A, van Dijk, Gert W, Jacobs, Bart C, Neurology, Medical Microbiology & Infectious Diseases, Public Health, and Immunology

Subjects
Neurology (clinical)
Abstract

BACKGROUND AND OBJECTIVES: To investigate CSF findings in relation to clinical and electrodiagnostic subtypes, severity, and outcome of Guillain-Barré syndrome (GBS) based on 1,500 patients in the International GBS Outcome Study. METHODS: Albuminocytologic dissociation (ACD) was defined as an increased protein level (>0.45 g/L) in the absence of elevated white cell count (4 days 84%. High CSF protein levels were associated with a demyelinating subtype, proximal or global muscle weakness, and a reduced likelihood of being able to run at week 2 (odds ratio [OR] 0.42, 95% CI 0.25-0.70; p = 0.001) and week 4 (OR 0.44, 95% CI 0.27-0.72; p = 0.001). Patients with the Miller Fisher syndrome, distal predominant weakness, and normal or equivocal nerve conduction studies were more likely to have lower CSF protein levels. CSF cell count was

Published
2023

16. Myasthenia Gravis crossing Parkinson's disease: a 20 year study from single Italian center.

Author

Iori, Erika, Mazzoli, Marco, Ariatti, Alessandra, Salviato, Tiziana, Rispoli, Vittorio, Valzania, Franco, and Galassi, Giuliana

Subjects
PARKINSON'S disease, MYASTHENIA gravis, COMORBIDITY, PURE red cell aplasia, SYMPTOMS
Abstract

The concomitant diagnosis of Parkinson's disease (PD) and Myasthenia Gravis (MG) is rare. The aim of the study was to report our experience of patients with both diagnoses. We performed a retrospective analysis of patients with MG and PD, seen at Neurology Department, Modena, Italy from 2000 to 2020. We encountered 12 patients with both diagnoses. All had late onset MG (LOMG) and low Myasthenia Gravis Foundation of America (MGFA) severity scores at baseline. In respect of PD assessement, clinical signs were followed and summarized with modified Hoehn and Yahr staging (mHY). Patients were ranked as progressive or non-progressive, according to any change in mHY staging. We compared characteristics and outcome of the patients with age matched myasthenic subjects without PD. The male gender significantly prevailed (p < 0.01) as well as the presence of multiple comorbidities (p < 0.001) in patients with MG associated with PD. In respect of clinical course, MG was benign as most of cases remained stable (66.7%). Six cases showed worsening of mHY scores; only one subject became wheelchair bound by the end of follow up. This uneven progression, at least in our hands, might suggest that MG and PD can evolve independently. Clinicians should be alert about the association of PD and MG since early diagnosis and treatment are essential. [ABSTRACT FROM AUTHOR]

Published
2024
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17. Predictors of respiratory failure in Guillain−Barré syndrome: a 22 year cohort study from a single Italian centre

Author

Galassi, Giuliana, primary, Mazzoli, Marco, additional, Ariatti, Alessandra, additional, Bedin, Roberta, additional, Marzullo, Donato, additional, Bastia, Elisabetta, additional, Agnoletto, Virginia, additional, Gozzi, Manuela, additional, Valzania, Franco, additional, Meletti, Stefano, additional, and Marchioni, Alessandro, additional

Published
2023
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21. Predictors of respiratory failure in Guillain−Barré syndrome: a 22 year cohort study from a single Italian centre.

Author

Galassi, Giuliana, Mazzoli, Marco, Ariatti, Alessandra, Bedin, Roberta, Marzullo, Donato, Bastia, Elisabetta, Agnoletto, Virginia, Gozzi, Manuela, Valzania, Franco, Meletti, Stefano, and Marchioni, Alessandro

Subjects
*GUILLAIN-Barre syndrome, *RESPIRATORY insufficiency, *NERVE conduction studies, *CEREBROSPINAL fluid, *LOGISTIC regression analysis, *DYSAUTONOMIA
Abstract

Background and purpose: The study aimed to identify predictors of respiratory failure leading to mechanical ventilation (MV) and tracheostomy in Guillain−Barré syndrome (GBS). Methods: Two hundred and thirty adult cases admitted to the Neurology Unit of Modena, Italy, between January 2000 and December 2021 were studied. A cut‐off of MV starting within 8 weeks from onset of weakness was used. Univariable, multivariable logistic and Cox regression analyses were used to determine which pre‐specified clinical and diagnostic characteristics were capable of predicting MV and tracheostomy, due to weaning failure. The model was internally validated within the full cohort. The Erasmus GBS Respiratory Insufficiency Score was retrospectively applied. Results: One hundred and seventy‐six cases (76.5%) were classified as classical sensorimotor GBS and 54 (23.4%) as variants. Thirty‐two patients (13.9%) needed MV: 84.3% required respiratory support within 7 days. Independent predictors of respiratory failure and MV were older age, facial, bulbar, neck flexor weakness, dysautonomia, axonal electrophysiological subtype, cardiovascular comorbidities and higher disability score at entry. There was no association with abnormal spinal fluid parameters nor with positive serology for recent infections. Twenty‐two patients (68.7%) were ventilated for more than 7 days; 4.7% died within 8 weeks. The patients who required MV were treated more often with plasma exchange. Independent predictors of tracheostomy due to weaning trial failure were facial, bulbar, neck flexor weakness, autonomic dysfunction, associated cardiovascular morbidities and axonal electrophysiological subtype on nerve conduction study. Conclusions: Our study indicates distinct predictors of MV and tracheostomy in GBS patients. [ABSTRACT FROM AUTHOR]

Published
2024
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23. Cerebrospinal Fluid Findings in Relation to Clinical Characteristics, Subtype, and Disease Course in Patients With Guillain-Barré Syndrome

Author

Al-Hakem, Helle, primary, Doets, Alex Y, additional, Stino, Amro Maher, additional, Zivkovic, Sasha A., additional, Andersen, Henning, additional, Willison, Hugh J, additional, Cornblath, David R, additional, Gorson, Kenneth C, additional, Islam, Zhahirul, additional, Mohammad, Quazi Deen, additional, Sindrup, Søren Hein, additional, Kusunoki, Susumu, additional, Davidson, Amy, additional, Casasnovas, Carlos, additional, Bateman, Kathleen, additional, Miller, James AL, additional, van den Berg, Bianca, additional, Verboon, Christine, additional, Roodbol, Joyce, additional, Leonhard, Sonja E, additional, Arends, Samuel, additional, Luijten, Linda W G, additional, Benedetti, Luana, additional, Kuwabara, Satoshi, additional, Van den Bergh, Peter, additional, Monges, Soledad, additional, Marfia, Girolama A, additional, Shahrizaila, Nortina, additional, Galassi, Giuliana, additional, Pereon, Yann, additional, Bürmann, Jan, additional, Kuitwaard, Krista, additional, Kleyweg, Ruud P, additional, Marchesoni, Cintia, additional, Sedano Tous, María J, additional, Querol, Luis, additional, Martín-Aguilar, Lorena, additional, Wang, Yuzhong, additional, Nobile-Orazio, Eduardo, additional, Rinaldi, Simon, additional, Schenone, Angelo, additional, Pardo, Julio, additional, Vermeij, Frederique H, additional, Waheed, Waqar, additional, Lehmann, Helmar C, additional, Granit, Volkan, additional, Stein, Beth, additional, Cavaletti, Guido, additional, Gutiérrez-Gutiérrez, Gerardo, additional, Barroso, Fabio A, additional, Visser, Leo H, additional, Katzberg, Hans D, additional, Dardiotis, Efthimios, additional, Attarian, Shahram, additional, van der Kooi, Anneke J, additional, Eftimov, Filip, additional, Wirtz, Paul W, additional, PA Samijn, Johnny, additional, Gilhuis, H Jacobus, additional, DM Hadden, Robert, additional, Holt, James KL, additional, Sheikh, Kazim A, additional, Kolb, Noah, additional, Karafiath, Summer, additional, Vytopil, Michal, additional, Antonini, Giovanni, additional, Feasby, Thomas E, additional, Faber, Catharina, additional, Kramers, Hans, additional, Busby, Mark, additional, Roberts, Rhys C, additional, Silvestri, Nicholas J, additional, Fazio, Raffaella, additional, van Dijk, Gert W, additional, Garssen, Marcel PJ, additional, Verschuuren, Jan, additional, Harbo, Thomas, additional, and Jacobs, Bart C, additional

Published
2023
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24. Current treatment practice of Guillain-Barré syndrome

Author

Verboon, Christine, Doets, Alex Y., Galassi, Giuliana, Davidson, Amy, Waheed, Waqar, Péréon, Yann, Shahrizaila, Nortina, Kusunoki, Susumu, Lehmann, Helmar C., Harbo, Thomas, Monges, Soledad, Van den Bergh, Peter, Willison, Hugh J., Cornblath, David R., and Jacobs, Bart C.

Published
2019
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25. Crioproteinemia: nuove frontiere per i clinici e il laboratorio.

Author

Natali, Patrizia, Debbia, Daria, Troiano, Teresa, Napodano, Cecilia, Spinella, Amelia, Amati, Gabriele, Filippini, Davide, Zani, Roberta, Alfano, Gaetano, Colaci, Elisabetta, Maccaferri, Monica, Galassi, Giuliana, Mazzoli, Marco, Ariatti, Alessandra, Basile, Umberto, Mascia, Maria Teresa, Palladini, Giovanni, Giuggioli, Dilia, and Sandri, Gilda

Abstract

Cryoproteinaemia is characterised by the presence of detectable proteins in both serum and plasma that precipitate at 4°C and dissolve at 37°C. Cryoglobulins are constituted by immunoglobulins and are detectable in both serum and plasma, whereas cryofibrinogen is detectable only in plasma. The importance of studying cryoproteinemia was the main theme of the meeting held in Modena in March 2023, entitled: Cryoglobulinemia. Laboratory and clinic, a fruitful collaboration for the correct management of a rare pathology - 4th edition, organised by the Italian Society of Clinical Biochemistry and Molecular Biology (SIBioC) and the Italian Association for the fight against Cryoglobulinaemia (ALCRI). The aim of this conference is to promote a dialogue between clinicians and laboratory professionals, highlighting the information that the clinician expects from the laboratory and the critical points that the laboratory faces when performing a test that is still predominantly performed manually. During the meeting, data from three laboratories were presented and compared, and a group of clinicians who deal with cryoproteinemia in different medical fields -- rheumatologists, nephrologists, haematologists, and neurologists -- contributed their experience in treating patients with cryoproteinemia. The collaboration between laboratory and clinic and the respective scientific societies (SIBioC and ALCRI) have made possible to draw a common line to guide both entities in their daily activity. The road seems long and complex, but a common system is emerging from this interaction, the fruits from which patient will benefit. [ABSTRACT FROM AUTHOR]

Published
2023
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36. Cardiac disorders worsen the final outcome in myasthenic crisis undergoing non-invasive mechanical ventilation: a retrospective 20-year study from a single center

Author

Iori, Erika, Ariatti, Alessandra, Mazzoli, Marco, Bastia, Elisabetta, Gozzi, Manuela, Agnoletto, Virginia, Marchioni, Alessandro, and Galassi, Giuliana

Subjects
Male, Noninvasive Ventilation, Atrial Fibrillation, Hypertension, Myasthenia Gravis, Humans, Female, Original Articles, Respiration, Artificial, Retrospective Studies
Abstract

The study was performed to evaluate the impact of cardiological disorders on the outcome of myasthenic crisis (MC) requiring ventilation. The study includes 90 cases admitted to the Neurology Unit of Modena, Italy (January 2000 - September 2020). All patients were eligible for a non-invasive ventilation (NIV) trial. We analyzed the effect of cardiac comorbidities on the outcomes, which were the need of invasive ventilation, the risk tracheostomy for weaning failure and the duration of intensive care unit (ICU) stay Females were 58.9% and males 41.1%. Median age at diagnosis was 59 and at MC was 65. Patients were classified as early (EOMG) or late (LOMG), 34.4 and 65.6% respectively, according to age above or below 50; 85% of patients were anti- AChR antibody positive. Hypertension and cardiac diseases occurred at the diagnosis in 61 and 44.4%, respectively. Invasive mechanical ventilation (MV) was needed in 34% of cases. Nine subjects (10%) underwent tracheostomy because of weaning failure. Independent predictors of NIV failure were atrial fibrillation (AF), either parossistic or persistent (OR 3.05, p < 0.01), hypertensive cardiopathy (HHD) (OR 2.52, p < 0.01) and ischaemic heart disease (IHD) (OR 3.08, p < 0.01). Hypertension (HT) had no statistical effect on the outcomes. HHD was a predictor of weaning failure (OR 4.01, p = 0.017). Our study shows that HHD, AF and IHD increase the risk of NIV failure in MC receiving ventilation.

Published
2022

37. Electrodiagnosis of Guillain-Barre syndrome in the International GBS Outcome Study: Differences in methods and reference values.

Author

UCL - (SLuc) Centre de référence neuromusculaire, UCL - (SLuc) Service de neurologie, Arends, Samuel, Drenthen, Judith, van den Bergh, Peter, Franssen, Hessel, Hadden, Robert D M, Islam, Badrul, Kuwabara, Satoshi, Reisin, Ricardo C, Shahrizaila, Nortina, Amino, Hiroshi, Antonini, Giovanni, Attarian, Shahram, Balducci, Claudia, Barroso, Fabio, Bertorini, Tulio, Binda, Davide, Brannagan, Thomas H, Buermann, Jan, Casasnovas, Carlos, Cavaletti, Guido, Chao, Chi-Chao, Dimachkie, Mazen M, Fulgenzi, Ernesto A, Galassi, Giuliana, Gutiérrez Gutiérrez, Gerardo, Harbo, Thomas, Hartung, Hans-Peter, Hsieh, Sung-Tsang, Kiers, Lynette, Lehmann, Helmar C, Manganelli, Fiore, Marfia, Girolama A, Mataluni, Giorgia, Pardo, Julio, Péréon, Yann, Rajabally, Yusuf A, Santoro, Lucio, Sekiguchi, Yukari, Stein, Beth, Stettner, Mark, Uncini, Antonino, Verboon, Christine, Verhamme, Camiel, Vytopil, Michal, Waheed, Waqar, Wang, Min, Zivkovic, Sasha, Jacobs, Bart C, Cornblath, David R, IGOS consortium, UCL - (SLuc) Centre de référence neuromusculaire, UCL - (SLuc) Service de neurologie, Arends, Samuel, Drenthen, Judith, van den Bergh, Peter, Franssen, Hessel, Hadden, Robert D M, Islam, Badrul, Kuwabara, Satoshi, Reisin, Ricardo C, Shahrizaila, Nortina, Amino, Hiroshi, Antonini, Giovanni, Attarian, Shahram, Balducci, Claudia, Barroso, Fabio, Bertorini, Tulio, Binda, Davide, Brannagan, Thomas H, Buermann, Jan, Casasnovas, Carlos, Cavaletti, Guido, Chao, Chi-Chao, Dimachkie, Mazen M, Fulgenzi, Ernesto A, Galassi, Giuliana, Gutiérrez Gutiérrez, Gerardo, Harbo, Thomas, Hartung, Hans-Peter, Hsieh, Sung-Tsang, Kiers, Lynette, Lehmann, Helmar C, Manganelli, Fiore, Marfia, Girolama A, Mataluni, Giorgia, Pardo, Julio, Péréon, Yann, Rajabally, Yusuf A, Santoro, Lucio, Sekiguchi, Yukari, Stein, Beth, Stettner, Mark, Uncini, Antonino, Verboon, Christine, Verhamme, Camiel, Vytopil, Michal, Waheed, Waqar, Wang, Min, Zivkovic, Sasha, Jacobs, Bart C, Cornblath, David R, and IGOS consortium

Abstract

To describe the heterogeneity of electrodiagnostic (EDx) studies in Guillain-Barré syndrome (GBS) patients collected as part of the International GBS Outcome Study (IGOS). Prospectively collected clinical and EDx data were available in 957 IGOS patients from 115 centers. Only the first EDx study was included in the current analysis. Median timing of the EDx study was 7 days (interquartile range 4-11) from symptom onset. Methodology varied between centers, countries and regions. Reference values from the responding 103 centers were derived locally in 49%, from publications in 37% and from a combination of these in the remaining 15%. Amplitude measurement in the EDx studies (baseline-to-peak or peak-to-peak) differed from the way this was done in the reference values, in 22% of motor and 39% of sensory conduction. There was marked variability in both motor and sensory reference values, although only a few outliers accounted for this. Our study showed extensive variation in the clinical practice of EDx in GBS patients among IGOS centers across the regions. Besides EDx variation in GBS patients participating in IGOS, this diversity is likely to be present in other neuromuscular disorders and centers. This underlines the need for standardization of EDx in future multinational GBS studies.

Published
2022

38. Predicting Outcome in Guillain-Barre Syndrome International Validation of the Modified Erasmus GBS Outcome Score

Author

Doets, Alex Y., Lingsma, Hester F., Walgaard, Christa, Islam, Badrul, Papri, Nowshin, Davidson, Amy, Kusunoki, Susumu, Dimachkie, Mazen M., Waheed, Waqar, Kolb, Noah, Islam, Zhahirul, Mohammad, Quazi Deen, Harbo, Thomas, Sindrup, Soren H., Chavada, Govindsinh, Willison, Hugh J., Casasnovas, Carlos, Bateman, Kathleen, Miller, James A. L., van den Berg, Bianca, Verboon, Christine, Roodbol, Joyce, Leonhard, Sonja E., Benedetti, Luana, Kuwabara, Satoshi, Van den Bergh, Peter, Monges, Soledad, Marfia, Girolama A., Shahrizaila, Nortina, Galassi, Giuliana, Pereon, Yann, Burmann, Jan, Kuitwaard, Krista, Kleyweg, Ruud P., Marchesoni, Cintia, Tous, Maria J. Sedano, Querol, Luis, Illa, Isabel, Wang, Yuzhong, Nobile-Orazio, Eduardo, Rinaldi, Simon, Schenone, Angelo, Pardo, Julio, Vermeij, Frederique H., Lehmann, Helmar C., Granit, Volkan, Cavaletti, Guido, Gutierrez-Gutierrez, Gerardo, Barroso, Fabio A., Visser, Leo H., Katzberg, Hans D., Dardiotis, Efthimios, Attarian, Shahram, van der Kooi, Anneke J., Eftimov, Filip, Wirtz, Paul W., Samijn, Johnny P. A., Gilhuis, H. Jacobus, Hadden, Robert D. M., Holt, James K. L., Sheikh, Kazim A., Karafiath, Summer, Vytopil, Michal, Antonini, Giovanni, Feasby, Thomas E., Faber, Catharina G., Gijsbers, Cees J., Busby, Mark, Roberts, Rhys C., Silvestri, Nicholas J., Fazio, Raffaella, van Dijk, Gert W., Garssen, Marcel P. J., Straathof, Chiara S. M., Gorson, Kenneth C., Jacobs, Bart C., Doets, Alex Y., Lingsma, Hester F., Walgaard, Christa, Islam, Badrul, Papri, Nowshin, Davidson, Amy, Kusunoki, Susumu, Dimachkie, Mazen M., Waheed, Waqar, Kolb, Noah, Islam, Zhahirul, Mohammad, Quazi Deen, Harbo, Thomas, Sindrup, Soren H., Chavada, Govindsinh, Willison, Hugh J., Casasnovas, Carlos, Bateman, Kathleen, Miller, James A. L., van den Berg, Bianca, Verboon, Christine, Roodbol, Joyce, Leonhard, Sonja E., Benedetti, Luana, Kuwabara, Satoshi, Van den Bergh, Peter, Monges, Soledad, Marfia, Girolama A., Shahrizaila, Nortina, Galassi, Giuliana, Pereon, Yann, Burmann, Jan, Kuitwaard, Krista, Kleyweg, Ruud P., Marchesoni, Cintia, Tous, Maria J. Sedano, Querol, Luis, Illa, Isabel, Wang, Yuzhong, Nobile-Orazio, Eduardo, Rinaldi, Simon, Schenone, Angelo, Pardo, Julio, Vermeij, Frederique H., Lehmann, Helmar C., Granit, Volkan, Cavaletti, Guido, Gutierrez-Gutierrez, Gerardo, Barroso, Fabio A., Visser, Leo H., Katzberg, Hans D., Dardiotis, Efthimios, Attarian, Shahram, van der Kooi, Anneke J., Eftimov, Filip, Wirtz, Paul W., Samijn, Johnny P. A., Gilhuis, H. Jacobus, Hadden, Robert D. M., Holt, James K. L., Sheikh, Kazim A., Karafiath, Summer, Vytopil, Michal, Antonini, Giovanni, Feasby, Thomas E., Faber, Catharina G., Gijsbers, Cees J., Busby, Mark, Roberts, Rhys C., Silvestri, Nicholas J., Fazio, Raffaella, van Dijk, Gert W., Garssen, Marcel P. J., Straathof, Chiara S. M., Gorson, Kenneth C., and Jacobs, Bart C.

Abstract

Background and Objectives The clinical course and outcome of the Guillain-Barre syndrome (GBS) are diverse and vary among regions. The modified Erasmus GBS Outcome Score (mEGOS), developed with data from Dutch patients, is a clinical model that predicts the risk of walking inability in patients with GBS. The study objective was to validate the mEGOS in the International GBS Outcome Study (IGOS) cohort and to improve its performance and region specificity. Methods We used prospective data from the first 1,500 patients included in IGOS, aged >= 6 years and unable to walk independently. We evaluated whether the mEGOS at entry and week 1 could predict the inability to walk unaided at 4 and 26 weeks in the full cohort and in regional subgroups, using 2 measures for model performance: (1) discrimination: area under the receiver operating characteristic curve (AUC) and (2) calibration: observed vs predicted probability of being unable to walk independently. To improve the model predictions, we recalibrated the model containing the overall mEGOS score, without changing the individual predictive factors. Finally, we assessed the predictive ability of the individual factors. Results For validation of mEGOS at entry, 809 patients were eligible (Europe/North America [n = 677], Asia [n = 76], other [n = 56]), and 671 for validation of mEGOS at week 1 (Europe/North America [n = 563], Asia [n = 65], other [n = 43]). AUC values were >0.7 in all regional subgroups. In the Europe/North America subgroup, observed outcomes were worse than predicted; in Asia, observed outcomes were better than predicted. Recalibration improved model accuracy and enabled the development of a region-specific version for Europe/North America (mEGOS-Eu/NA). Similar to the original mEGOS, severe limb weakness and higher age were the predominant predictors of poor outcome in the IGOS cohort. Discussion mEGOS is a validated tool to predict the inability to walk unaided at 4 and 26 weeks in patients with GBS, a

Published
2022

39. Electrodiagnosis of Guillain-Barre syndrome in the International GBS Outcome Study: Differences in methods and reference values

Author

Arends, Samuel, Drenthen, Judith, van den Bergh, Peter, Franssen, Hessel, Hadden, Robert D. M., Islam, Badrul, Kuwabara, Satoshi, Reisin, Ricardo C., Shahrizaila, Nortina, Amino, Hiroshi, Antonini, Giovanni, Attarian, Shahram, Balducci, Claudia, Barroso, Fabio, Bertorini, Tulio, Binda, Davide, Brannagan, Thomas H., Buermann, Jan, Casasnovas, Carlos, Cavaletti, Guido, Chao, Chi-Chao, Dimachkie, Mazen M., Fulgenzi, Ernesto A., Galassi, Giuliana, Gutierrez, Gerardo Gutierrez, Harbo, Thomas, Hartung, Hans-Peter, Hsieh, Sung-Tsang, Kiers, Lynette, Lehmann, Helmar C., Manganelli, Fiore, Marfia, Girolama A., Mataluni, Giorgia, Pardo, Julio, Pereon, Yann, Rajabally, Yusuf A., Santoro, Lucio, Sekiguchi, Yukari, Stein, Beth, Stettner, Mark, Uncini, Antonino, Verboon, Christine, Verhamme, Camiel, Vytopil, Michal, Waheed, Waqar, Wang, Min, Zivkovic, Sasha, Jacobs, Bart C., Cornblath, David R., Arends, Samuel, Drenthen, Judith, van den Bergh, Peter, Franssen, Hessel, Hadden, Robert D. M., Islam, Badrul, Kuwabara, Satoshi, Reisin, Ricardo C., Shahrizaila, Nortina, Amino, Hiroshi, Antonini, Giovanni, Attarian, Shahram, Balducci, Claudia, Barroso, Fabio, Bertorini, Tulio, Binda, Davide, Brannagan, Thomas H., Buermann, Jan, Casasnovas, Carlos, Cavaletti, Guido, Chao, Chi-Chao, Dimachkie, Mazen M., Fulgenzi, Ernesto A., Galassi, Giuliana, Gutierrez, Gerardo Gutierrez, Harbo, Thomas, Hartung, Hans-Peter, Hsieh, Sung-Tsang, Kiers, Lynette, Lehmann, Helmar C., Manganelli, Fiore, Marfia, Girolama A., Mataluni, Giorgia, Pardo, Julio, Pereon, Yann, Rajabally, Yusuf A., Santoro, Lucio, Sekiguchi, Yukari, Stein, Beth, Stettner, Mark, Uncini, Antonino, Verboon, Christine, Verhamme, Camiel, Vytopil, Michal, Waheed, Waqar, Wang, Min, Zivkovic, Sasha, Jacobs, Bart C., and Cornblath, David R.

Abstract

Objective: To describe the heterogeneity of electrodiagnostic (EDx) studies in Guillain-Barre syndrome (GBS) patients collected as part of the International GBS Outcome Study (IGOS).Methods: Prospectively collected clinical and EDx data were available in 957 IGOS patients from 115 centers. Only the first EDx study was included in the current analysis.Results: Median timing of the EDx study was 7 days (interquartile range 4-11) from symptom onset. Methodology varied between centers, countries and regions. Reference values from the responding 103 centers were derived locally in 49%, from publications in 37% and from a combination of these in the remaining 15%. Amplitude measurement in the EDx studies (baseline-to-peak or peak-to-peak) differed from the way this was done in the reference values, in 22% of motor and 39% of sensory conduction. There was marked variability in both motor and sensory reference values, although only a few outliers accounted for this.Conclusions: Our study showed extensive variation in the clinical practice of EDx in GBS patients among IGOS centers across the regions. Significance: Besides EDx variation in GBS patients participating in IGOS, this diversity is likely to be present in other neuromuscular disorders and centers. This underlines the need for standardization of EDx in future multinational GBS studies.(c) 2022 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

Published
2022

40. Electrodiagnosis of Guillain-Barre syndrome in the International GBS Outcome Study:Differences in methods and reference values

Author

Arends, Samuel, Drenthen, Judith, van den Bergh, Peter, Franssen, Hessel, Hadden, Robert D M, Islam, Badrul, Kuwabara, Satoshi, Reisin, Ricardo C, Shahrizaila, Nortina, Amino, Hiroshi, Antonini, Giovanni, Attarian, Shahram, Balducci, Claudia, Barroso, Fabio, Bertorini, Tulio, Binda, Davide, Brannagan, Thomas H, Buermann, Jan, Casasnovas, Carlos, Cavaletti, Guido, Chao, Chi-Chao, Dimachkie, Mazen M, Fulgenzi, Ernesto A, Galassi, Giuliana, Gutiérrez Gutiérrez, Gerardo, Harbo, Thomas, Hartung, Hans-Peter, Hsieh, Sung-Tsang, Kiers, Lynette, Lehmann, Helmar C, Manganelli, Fiore, Marfia, Girolama A, Mataluni, Giorgia, Pardo, Julio, Péréon, Yann, Rajabally, Yusuf A, Santoro, Lucio, Sekiguchi, Yukari, Stein, Beth, Stettner, Mark, Uncini, Antonino, Verboon, Christine, Verhamme, Camiel, Vytopil, Michal, Waheed, Waqar, Wang, Min, Zivkovic, Sasha, Jacobs, Bart C, Cornblath, David R, Arends, Samuel, Drenthen, Judith, van den Bergh, Peter, Franssen, Hessel, Hadden, Robert D M, Islam, Badrul, Kuwabara, Satoshi, Reisin, Ricardo C, Shahrizaila, Nortina, Amino, Hiroshi, Antonini, Giovanni, Attarian, Shahram, Balducci, Claudia, Barroso, Fabio, Bertorini, Tulio, Binda, Davide, Brannagan, Thomas H, Buermann, Jan, Casasnovas, Carlos, Cavaletti, Guido, Chao, Chi-Chao, Dimachkie, Mazen M, Fulgenzi, Ernesto A, Galassi, Giuliana, Gutiérrez Gutiérrez, Gerardo, Harbo, Thomas, Hartung, Hans-Peter, Hsieh, Sung-Tsang, Kiers, Lynette, Lehmann, Helmar C, Manganelli, Fiore, Marfia, Girolama A, Mataluni, Giorgia, Pardo, Julio, Péréon, Yann, Rajabally, Yusuf A, Santoro, Lucio, Sekiguchi, Yukari, Stein, Beth, Stettner, Mark, Uncini, Antonino, Verboon, Christine, Verhamme, Camiel, Vytopil, Michal, Waheed, Waqar, Wang, Min, Zivkovic, Sasha, Jacobs, Bart C, and Cornblath, David R

Abstract

OBJECTIVE: To describe the heterogeneity of electrodiagnostic (EDx) studies in Guillain-Barré syndrome (GBS) patients collected as part of the International GBS Outcome Study (IGOS).METHODS: Prospectively collected clinical and EDx data were available in 957 IGOS patients from 115 centers. Only the first EDx study was included in the current analysis.RESULTS: Median timing of the EDx study was 7 days (interquartile range 4-11) from symptom onset. Methodology varied between centers, countries and regions. Reference values from the responding 103 centers were derived locally in 49%, from publications in 37% and from a combination of these in the remaining 15%. Amplitude measurement in the EDx studies (baseline-to-peak or peak-to-peak) differed from the way this was done in the reference values, in 22% of motor and 39% of sensory conduction. There was marked variability in both motor and sensory reference values, although only a few outliers accounted for this.CONCLUSIONS: Our study showed extensive variation in the clinical practice of EDx in GBS patients among IGOS centers across the regions.SIGNIFICANCE: Besides EDx variation in GBS patients participating in IGOS, this diversity is likely to be present in other neuromuscular disorders and centers. This underlines the need for standardization of EDx in future multinational GBS studies.

Published
2022

41. Predicting Outcome in Guillain-Barré Syndrome: International Validation of the Modified Erasmus GBS Outcome Score

Author

Doets, A, Lingsma, H, Walgaard, C, Islam, B, Papri, N, Davidson, A, Yamagishi, Y, Kusunoki, S, Dimachkie, M, Waheed, W, Kolb, N, Islam, Z, Mohammad, Q, Harbo, T, Sindrup, S, Chavada, G, Willison, H, Casasnovas, C, Bateman, K, Miller, J, van den Berg, B, Verboon, C, Roodbol, J, Leonhard, S, Benedetti, L, Kuwabara, S, Van den Bergh, P, Monges, S, Marfia, G, Shahrizaila, N, Galassi, G, Péréon, Y, Bürmann, J, Kuitwaard, K, Kleyweg, R, Marchesoni, C, Sedano Tous, M, Querol, L, Illa, I, Wang, Y, Nobile-Orazio, E, Rinaldi, S, Schenone, A, Pardo, J, Vermeij, F, Lehmann, H, Granit, V, Cavaletti, G, Gutiérrez-Gutiérrez, G, Barroso, F, Visser, L, Katzberg, H, Dardiotis, E, Attarian, S, van der Kooi, A, Eftimov, F, Wirtz, P, Samijn, J, Gilhuis, H, Hadden, R, Holt, J, Sheikh, K, Karafiath, S, Vytopil, M, Antonini, G, Feasby, T, Faber, C, Gijsbers, C, Busby, M, Roberts, R, Silvestri, N, Fazio, R, van Dijk, G, Garssen, M, Straathof, C, Gorson, K, Jacobs, B, Doets, Alex Y, Lingsma, Hester F, Walgaard, Christa, Islam, Badrul, Papri, Nowshin, Davidson, Amy, Yamagishi, Yuko, Kusunoki, Susumu, Dimachkie, Mazen M, Waheed, Waqar, Kolb, Noah, Islam, Zhahirul, Mohammad, Quazi Deen, Harbo, Thomas, Sindrup, Soren H, Chavada, Govindsinh, Willison, Hugh J, Casasnovas, Carlos, Bateman, Kathleen, Miller, James A L, van den Berg, Bianca, Verboon, Christine, Roodbol, Joyce, Leonhard, Sonja E, Benedetti, Luana, Kuwabara, Satoshi, Van den Bergh, Peter, Monges, Soledad, Marfia, Girolama A, Shahrizaila, Nortina, Galassi, Giuliana, Péréon, Yann, Bürmann, Jan, Kuitwaard, Krista, Kleyweg, Ruud P, Marchesoni, Cintia, Sedano Tous, María J, Querol, Luis, Illa, Isabel, Wang, Yuzhong, Nobile-Orazio, Eduardo, Rinaldi, Simon, Schenone, Angelo, Pardo, Julio, Vermeij, Frederique H, Lehmann, Helmar C, Granit, Volkan, Cavaletti, Guido, Gutiérrez-Gutiérrez, Gerardo, Barroso, Fabio A, Visser, Leo H, Katzberg, Hans D, Dardiotis, Efthimios, Attarian, Shahram, van der Kooi, Anneke J, Eftimov, Filip, Wirtz, Paul W, Samijn, Johnny P A, Gilhuis, H Jacobus, Hadden, Robert D M, Holt, James K L, Sheikh, Kazim A, Karafiath, Summer, Vytopil, Michal, Antonini, Giovanni, Feasby, Thomas E, Faber, Catharina G, Gijsbers, Cees J, Busby, Mark, Roberts, Rhys C, Silvestri, Nicholas J, Fazio, Raffaella, van Dijk, Gert W, Garssen, Marcel P J, Straathof, Chiara S M, Gorson, Kenneth C, Jacobs, Bart C, Doets, A, Lingsma, H, Walgaard, C, Islam, B, Papri, N, Davidson, A, Yamagishi, Y, Kusunoki, S, Dimachkie, M, Waheed, W, Kolb, N, Islam, Z, Mohammad, Q, Harbo, T, Sindrup, S, Chavada, G, Willison, H, Casasnovas, C, Bateman, K, Miller, J, van den Berg, B, Verboon, C, Roodbol, J, Leonhard, S, Benedetti, L, Kuwabara, S, Van den Bergh, P, Monges, S, Marfia, G, Shahrizaila, N, Galassi, G, Péréon, Y, Bürmann, J, Kuitwaard, K, Kleyweg, R, Marchesoni, C, Sedano Tous, M, Querol, L, Illa, I, Wang, Y, Nobile-Orazio, E, Rinaldi, S, Schenone, A, Pardo, J, Vermeij, F, Lehmann, H, Granit, V, Cavaletti, G, Gutiérrez-Gutiérrez, G, Barroso, F, Visser, L, Katzberg, H, Dardiotis, E, Attarian, S, van der Kooi, A, Eftimov, F, Wirtz, P, Samijn, J, Gilhuis, H, Hadden, R, Holt, J, Sheikh, K, Karafiath, S, Vytopil, M, Antonini, G, Feasby, T, Faber, C, Gijsbers, C, Busby, M, Roberts, R, Silvestri, N, Fazio, R, van Dijk, G, Garssen, M, Straathof, C, Gorson, K, Jacobs, B, Doets, Alex Y, Lingsma, Hester F, Walgaard, Christa, Islam, Badrul, Papri, Nowshin, Davidson, Amy, Yamagishi, Yuko, Kusunoki, Susumu, Dimachkie, Mazen M, Waheed, Waqar, Kolb, Noah, Islam, Zhahirul, Mohammad, Quazi Deen, Harbo, Thomas, Sindrup, Soren H, Chavada, Govindsinh, Willison, Hugh J, Casasnovas, Carlos, Bateman, Kathleen, Miller, James A L, van den Berg, Bianca, Verboon, Christine, Roodbol, Joyce, Leonhard, Sonja E, Benedetti, Luana, Kuwabara, Satoshi, Van den Bergh, Peter, Monges, Soledad, Marfia, Girolama A, Shahrizaila, Nortina, Galassi, Giuliana, Péréon, Yann, Bürmann, Jan, Kuitwaard, Krista, Kleyweg, Ruud P, Marchesoni, Cintia, Sedano Tous, María J, Querol, Luis, Illa, Isabel, Wang, Yuzhong, Nobile-Orazio, Eduardo, Rinaldi, Simon, Schenone, Angelo, Pardo, Julio, Vermeij, Frederique H, Lehmann, Helmar C, Granit, Volkan, Cavaletti, Guido, Gutiérrez-Gutiérrez, Gerardo, Barroso, Fabio A, Visser, Leo H, Katzberg, Hans D, Dardiotis, Efthimios, Attarian, Shahram, van der Kooi, Anneke J, Eftimov, Filip, Wirtz, Paul W, Samijn, Johnny P A, Gilhuis, H Jacobus, Hadden, Robert D M, Holt, James K L, Sheikh, Kazim A, Karafiath, Summer, Vytopil, Michal, Antonini, Giovanni, Feasby, Thomas E, Faber, Catharina G, Gijsbers, Cees J, Busby, Mark, Roberts, Rhys C, Silvestri, Nicholas J, Fazio, Raffaella, van Dijk, Gert W, Garssen, Marcel P J, Straathof, Chiara S M, Gorson, Kenneth C, and Jacobs, Bart C

Abstract

Background and objectives: The clinical course and outcome of the Guillain-Barré syndrome (GBS) are diverse and vary among regions. The modified Erasmus GBS Outcome Score (mEGOS), developed with data from Dutch patients, is a clinical model that predicts the risk of walking inability in patients with GBS. The study objective was to validate the mEGOS in the International GBS Outcome Study (IGOS) cohort and to improve its performance and region specificity. Methods: We used prospective data from the first 1,500 patients included in IGOS, aged ≥6 years and unable to walk independently. We evaluated whether the mEGOS at entry and week 1 could predict the inability to walk unaided at 4 and 26 weeks in the full cohort and in regional subgroups, using 2 measures for model performance: (1) discrimination: area under the receiver operating characteristic curve (AUC) and (2) calibration: observed vs predicted probability of being unable to walk independently. To improve the model predictions, we recalibrated the model containing the overall mEGOS score, without changing the individual predictive factors. Finally, we assessed the predictive ability of the individual factors. Results: For validation of mEGOS at entry, 809 patients were eligible (Europe/North America [n = 677], Asia [n = 76], other [n = 56]), and 671 for validation of mEGOS at week 1 (Europe/North America [n = 563], Asia [n = 65], other [n = 43]). AUC values were >0.7 in all regional subgroups. In the Europe/North America subgroup, observed outcomes were worse than predicted; in Asia, observed outcomes were better than predicted. Recalibration improved model accuracy and enabled the development of a region-specific version for Europe/North America (mEGOS-Eu/NA). Similar to the original mEGOS, severe limb weakness and higher age were the predominant predictors of poor outcome in the IGOS cohort. Discussion: mEGOS is a validated tool to predict the inability to walk unaided at 4 and 26 weeks in patients with

Published
2022

44. Predictors of prognosis in type 1 myotonic dystrophy (DM1): longitudinal 18-years experience from a single center

Author

Mazzoli, Marco, Ariatti, Alessandra, Garuti, Gian Carlo, Agnoletto, Virginia, Genovese, Maurilio, Gozzi, Manuela, Kaleci, Shaniko, Marchioni, Alessandro, Malagoli, Marcella, and Galassi, Giuliana

Subjects
Adult, Male, Noninvasive Ventilation, Diagnostic Techniques, Neurological, Prognosis, Muscular Dystrophies, Myotonin-Protein Kinase, CTG trinucleotide repeat, Disability Evaluation, Italy, Cardiovascular Diseases, myotonic dystrophy type I, Disease Progression, muscular impairment rating scale, Humans, Myotonic Dystrophy, Original Article, Female, Neuromuscular Monitoring, Age of Onset, Nervous System Diseases, Trinucleotide Repeat Expansion, Retrospective Studies
Abstract

The aim of the study was to identify possible predictors of neurological worsening and need of non-invasive ventilation (NIV) in individuals affected by myotonic dystrophy type 1 (DM1), the most common form of adult-onset muscular dystrophy. Methods A retrospective observational cohort study was undertaken. Thirty-three patients with genetic diagnosis of DM1 were followed at our Neuromuscular unit in Modena. Abnormal trinucleotide repeat (CTG) expansion of dystrophy protein kinase gene (MDPK) on chromosome 19q 13.3 was the prerequisite for inclusion. The number of CTG repeats was determined. All the participants were older than 14 at the time of enrolment, therefore they could be included into the juvenile or adult form of the disease. Participants were neurologically evaluated every 6-8 months up to 18 years. Neurological impairment was assessed by Muscular Impairment Rating (MIRS), Medical Research Council (MRC), and modified Rankin (mRS) scales. The independent variables considered for prognosis were age at first evaluation, duration of the disease, CTG repeat number, gender, and presence of cardiac and vascular morbidities. Male patients were 51.5% and female patients 48.5%. Sixteen patients were younger than the mean age of 30.1 years, while the remaining 17 were up to 65. Twelve subjects (36.4%) underwent NIV before the end of follow-up. Muscle force and disability scores showed statistically significant deterioration (p < 0.001) during follow-up. The worsening was significantly higher among patients carrying higher number of CTG repeats and of younger age. The presence of cardio-vascular involvement has significant impact on neurological and respiratory progression. Neurological worsening is predicted by CTG expansion size, young age and presence of cardio-vascular morbidities.

Published
2020

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