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152. Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred

Author

Breedveld, G.J. (Guido), Fabbrini, G. (Giovanni), Oostra, B.A. (Ben), Berardelli, A. (Alfredo), Bonifati, V. (Vincenzo), Breedveld, G.J. (Guido), Fabbrini, G. (Giovanni), Oostra, B.A. (Ben), Berardelli, A. (Alfredo), and Bonifati, V. (Vincenzo)

Abstract

Tourette syndrome (TS) is a frequent neuropsychiatric disorder of unknown etiology. A number of chromosomal regions have been nominated as TS loci in linkage studies, but confirmation has met with limited success and causative mutations have not yet been definitely identified. Furthermore, TS, chronic tics, and obsessive-compulsive disorder (OCD) occur at increased frequencies among TS relatives, supporting the view that these phenotypes represent parts of the same genetically determined spectrum. We ascertained a four-generation Italian kindred segregating TS, chronic multiple motor tics (CMT), and OCD, and we performed a ten-centimorgan (cM) genome-wide linkage scan in order to map the underlying genetic defect. Suggestive linkage to chromosome 14q31.1 (multipoint LOD=2.4) was detected by affected-only analysis under an autosomal dominant model and a narrower phenotype definition (only the subjects with TS and CMT were considered as affected). The linkage peak increased and it approached genome-wide significance (LOD=3.29) when a broader phenotype definition was adopted (subjects with TS, CMT, and OCD considered as affected). Haplotype analysis defined a ∼2.3 cM critical region, shared by all the relatives with TS, CMT, or OCD. In conclusion, we provide strong evidence for linkage of TS spectrum to chromosome 14q31.1. Suggestive linkage to an overlapping region of chromosome 14q was reported in a recent scan of TS sibling pairs. This region might therefore contain an important gene for TS, and it should be prioritized for further study.

Published
2010
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153. Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred

Author

Breedveld, Guido, Fabbrini, G, Oostra, Ben, Berardelli, A, Bonifati, Vincenzo, Breedveld, Guido, Fabbrini, G, Oostra, Ben, Berardelli, A, and Bonifati, Vincenzo

Abstract

Tourette syndrome (TS) is a frequent neuropsychiatric disorder of unknown etiology. A number of chromosomal regions have been nominated as TS loci in linkage studies, but confirmation has met with limited success and causative mutations have not yet been definitely identified. Furthermore, TS, chronic tics, and obsessive-compulsive disorder (OCD) occur at increased frequencies among TS relatives, supporting the view that these phenotypes represent parts of the same genetically determined spectrum. We ascertained a four-generation Italian kindred segregating TS, chronic multiple motor tics (CMT), and OCD, and we performed a ten-centimorgan (cM) genome-wide linkage scan in order to map the underlying genetic defect. Suggestive linkage to chromosome 14q31.1 (multipoint LOD = 2.4) was detected by affected-only analysis under an autosomal dominant model and a narrower phenotype definition (only the subjects with TS and CMT were considered as affected). The linkage peak increased and it approached genome-wide significance (LOD = 3.29) when a broader phenotype definition was adopted (subjects with TS, CMT, and OCD considered as affected). Haplotype analysis defined a similar to 2.3 cM critical region, shared by all the relatives with TS, CMT, or OCD. In conclusion, we provide strong evidence for linkage of TS spectrum to chromosome 14q31.1. Suggestive linkage to an overlapping region of chromosome 14q was reported in a recent scan of TS sibling pairs. This region might therefore contain an important gene for TS, and it should be prioritized for further study.

Published
2010

154. Lower limb involvement in adult-onset primary dystonia: frequency and clinical features

Author

Martino, Da, Macerollo, A, Abbruzzese, G, Bentivoglio, Anna Rita, Berardelli, A, Esposito, M, Fabbrini, G, Girlanda, P, Guidubaldi, Arianna, Liguori, R, Liuzzi, D, Marinelli, L, Morgante, F, Sabetta, A, Santoro, L, Defazio, G., Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X), Martino, Da, Macerollo, A, Abbruzzese, G, Bentivoglio, Anna Rita, Berardelli, A, Esposito, M, Fabbrini, G, Girlanda, P, Guidubaldi, Arianna, Liguori, R, Liuzzi, D, Marinelli, L, Morgante, F, Sabetta, A, Santoro, L, Defazio, G., and Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X)

Abstract

Despite the growing number of reports describing adult-onset primary lower limb dystonia (LLD) this entity has never been systematically evaluated in the general population of patients with primary adult-onset dystonia.

Published
2010

158. Summary of the recommendations of the EFNS/MDS‐ES review on therapeutic management of Parkinson's disease

Author

Ferreira, J. J., primary, Katzenschlager, R., additional, Bloem, B. R., additional, Bonuccelli, U., additional, Burn, D., additional, Deuschl, G., additional, Dietrichs, E., additional, Fabbrini, G., additional, Friedman, A., additional, Kanovsky, P., additional, Kostic, V., additional, Nieuwboer, A., additional, Odin, P., additional, Poewe, W., additional, Rascol, O., additional, Sampaio, C., additional, Schüpbach, M., additional, Tolosa, E., additional, Trenkwalder, C., additional, Schapira, A., additional, Berardelli, A., additional, and Oertel, W. H., additional

Published
2012
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159. Facial bradykinesia

Author

Bologna, M., primary, Fabbrini, G., additional, Marsili, L., additional, Defazio, G., additional, Thompson, P. D., additional, and Berardelli, A., additional

Published
2012
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160. Tremor in primary adult-onset dystonia: prevalence and associated clinical features

Author

Defazio, G., primary, Gigante, A. F., additional, Abbruzzese, G., additional, Bentivoglio, A. R., additional, Colosimo, C., additional, Esposito, M., additional, Fabbrini, G., additional, Guidubaldi, A., additional, Girlanda, P., additional, Liguori, R., additional, Marinelli, L., additional, Morgante, F., additional, Santoro, L., additional, Tinazzi, M., additional, Livrea, P., additional, and Berardelli, A., additional

Published
2012
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163. Environmental risk factors and clinical phenotype in familial and sporadic primary blepharospasm

Author

Defazio, G., primary, Abbruzzese, G., additional, Aniello, M.S., additional, Bloise, M., additional, Crisci, C., additional, Eleopra, R., additional, Fabbrini, G., additional, Girlanda, P., additional, Liguori, R., additional, Macerollo, A., additional, Marinelli, L., additional, Martino, D., additional, Morgante, F., additional, Santoro, L., additional, Tinazzi, M., additional, and Berardelli, A., additional

Published
2011
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168. Urodynamic study in the differential diagnosis between multiple system atrophy and Parkinson's disease

Author

Fabrizio Stocchi, Barbato, L., Carbone, A., Fabbrini, G., Ruggieri, S., Bonamartini, A., Baffigo, G., and Agnoli, A.

Subjects
Male, Urinary Bladder, Shy-Drager Syndrome, Parkinson Disease, Middle Aged, Corpus Striatum, Diagnosis, Differential, Substantia Nigra, Urodynamics, Urethra, Nerve Degeneration, Neural Pathways, Olivopontocerebellar Atrophies, Humans, Female, Urinary Bladder, Neurogenic, Aged, Spinocerebellar Degenerations
Published
1993

170. Lower limb involvement in adult-onset primary dystonia: frequency and clinical features

Author

Martino, D., primary, Macerollo, A., additional, Abbruzzese, G., additional, Bentivoglio, A. R., additional, Berardelli, A., additional, Esposito, M., additional, Fabbrini, G., additional, Girlanda, P., additional, Guidubaldi, A., additional, Liguori, R., additional, Liuzzi, D., additional, Marinelli, L., additional, Morgante, F., additional, Sabetta, A., additional, Santoro, L., additional, and Defazio, G., additional

Published
2009
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175. Motor response complications with chronic levodopa therapy

Author

Chase, T. N., Fabbrini, G., Juncos, J. L., and M. Maral Mouradian

Subjects
Levodopa, Neurologic Examination, Dose-Response Relationship, Drug, Motor Skills, Humans, Parkinson Disease, Drug Administration Schedule
Published
1990

178. Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family

Author

Casali, C., primary, Bonifati, V., additional, Santorelli, F.M., additional, Casari, G., additional, Fortini, D., additional, Patrignani, A., additional, Fabbrini, G., additional, Carrozzo, R., additional, D'Amati, G., additional, Locuratolo, N., additional, Vanacore, N., additional, Damiano, M., additional, Pierallini, A., additional, Pierelli, F., additional, Amabile, G.A., additional, and Meco, G., additional

Published
2001
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182. Smoking habits in multiple system atrophy and progressive supranuclear palsy

Author

Vanacore, N., primary, Bonifati, V., additional, Fabbrini, G., additional, Colosimo, C., additional, Marconi, R., additional, Nicholl, D., additional, Bonuccelli, U., additional, Stocchi, F., additional, Lamberti, P., additional, Volpe, G., additional, De Michele, G., additional, Iavarone, I., additional, Bennett, P., additional, Vieregge, P., additional, and Meco, G., additional

Published
2000
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183. A study of five candidate genes in Parkinson's disease and related neurodegenerative disorders

Author

Nicholl, D. J., primary, Bennett, P., additional, Hiller, L., additional, Bonifati, V., additional, Vanacore, N., additional, Fabbrini, G., additional, Marconi, R., additional, Colosimo, C., additional, Lamberti, P., additional, Stocchi, F., additional, Bonuccelli, U., additional, Vieregge, P., additional, Ramsden, D. B., additional, Meco, G., additional, and Williams, A. C., additional

Published
1999
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185. Central and peripheral markers of gabaergic involvement in Parkinson's disease

Author

Agnoli, A, Fabbrini, G, Stocchi, F, Ferrarese, C, Appollonio, I, Frigo, M, Pecora, N, Pierpaoli, C, Frattola, L, FERRARESE, CARLO, APPOLLONIO, ILDEBRANDO, PECORA, NICOLETTA, Frattola, L., Agnoli, A, Fabbrini, G, Stocchi, F, Ferrarese, C, Appollonio, I, Frigo, M, Pecora, N, Pierpaoli, C, Frattola, L, FERRARESE, CARLO, APPOLLONIO, ILDEBRANDO, PECORA, NICOLETTA, and Frattola, L.

Published
1991

187. Dopamine Hypersensitivity in Migraine

Author

Cerbo, R., primary, Barbanti, P., additional, Buzzi, M. G., additional, Fabbrini, G., additional, Brusa, L., additional, Roberti, C., additional, Zanette, E., additional, and Lenzi, G. L., additional

Published
1997
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194. Morbo di Parkinson

Author

Ruggieri, S., primary, Baronti, F., additional, Stocchi, F., additional, Barbato, L., additional, Fabbrini, G., additional, Viselli, F., additional, Stefano, E., additional, and Agnoli, A., additional

Published
1993
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196. Head trauma in primary cranial dystonias: a multicentre case-control study.

Author

Martino D, Defazio G, Abbruzzese G, Girlanda P, Tinazzi M, Fabbrini G, Aniello MS, Avanzino L, Colosimo C, Majorana G, Trompetto C, Berardelli A, Martino, Davide, Defazio, Giovanni, Abbruzzese, Giovanni, Girlanda, Paolo, Tinazzi, Michele, Fabbrini, Giovanni, Aniello, Maria Stella, and Avanzino, Laura

Abstract

Background: The relationship between prior trauma and primary adult-onset dystonia is not well understood. Previous uncontrolled observations and exploratory case-control studies have yielded contradictory results.Objective: To analyse the association between cranial dystonia and prior head trauma.Methods: An ad hoc multicentre case-control study was performed using a semistructured interview to collect detailed information on the history of head trauma before disease onset in five Italian tertiary referral centres for movement disorders. The presence of a history of head trauma and of post-traumatic sequelae (loss of consciousness, bone fractures, scalp/facial wounds) before disease onset was recorded from 177 patients with primary adult-onset cranial dystonia and from 217 controls with primary hemifacial spasm matched by age strata and sex. Differences between groups were assessed by Mann-Whitney U test and Fisher's exact test, and the relationship between prior head trauma and case/control status was analysed by multivariate logistic regression models.Results: No association was found between vault/maxillofacial trauma and cranial dystonia. Most reported traumas occurred several years before disease onset. None of the main post-traumatic sequelae altered the chance of developing cranial dystonia compared with patients with primary hemifacial spasm, nor did head trauma modify the age at onset of cranial dystonia.Conclusions: These results do not support prior head trauma as a possible environmental factor modifying the risk of developing late-onset cranial dystonia. The lack of association may have pathogenetic and medical-forensic implications. [ABSTRACT FROM AUTHOR]

Published
2007

197. No clinical or neurophysiological evidence of botulinum toxin diffusion to non-injected muscles in patients with hemifacial spasm.

Author

Lorenzano, C., Bagnato, S., Gilio, F., Fabbrini, G., and Berardelli, A.

Abstract

Botulinum toxin injected into a muscle may diffuse to nearby muscles thus producing unwanted effects. In patients with hemifacial spasm, we evaluated clinically and neurophysiologically, whether botulinum toxin type A (BoNT-A) diffuses from the injection site (orbicularis oculi) to untreated muscles (orbicularis oris, the affected side; and orbicularis oculi and oris; the unaffected side). We studied 38 patients with idiopathic hemifacial spasm. Botulinum toxin was injected into the affected orbicularis oculi muscle alone (at 3 standardized sites) at a clinically effective dose. Patients were studied before (T0) and 3-4 weeks after treatment (T1). We evaluated the clinical effects of botulinum toxin and muscle strength in the affected and unaffected muscles. We also assessed the peak-to-peak amplitude compound muscle action potential (CMAP) recorded from the orbicularis oculi and orbicularis oris muscles on both sides after supramaximal electrical stimulation of the facial nerve at the stylomastoid foramen. In all patients, botulinum toxin treatment reduced muscle spasms in the injected orbicularis oculi muscle and induced no muscle weakness in the other facial muscles. The CMAP amplitude significantly decreased in the injected orbicularis oculi muscle, but remained unchanged in the other facial muscles (orbicularis oris muscle on the affected side and contra-lateral unaffected muscles). In conclusion, in patients with hemifacial spasm, botulinum toxin, at a clinically effective dose, induces no clinical signs of diffusion and does not reduce the CMAP size in the nearby untreated orbicularis oris or contralateral facial muscles. [ABSTRACT FROM AUTHOR]

Published
2006
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198. Unilateral cranial autonomic symptoms in migraine.

Author

Barbanti, P, Fabbrini, G, Pesare, M, Vanacore, N, and Cerbo, R

Subjects
*MIGRAINE, *HEADACHE
Abstract

Unilateral cranial autonomic symptoms (UAs) such as lacrimation, conjunctival injection, eyelid oedema and nasal congestion, which are the hallmark of trigeminal autonomic cephalgias, may also occur in an as yet undetermined proportion of migraine patients. We studied 177 consecutive migraineurs to assess the frequency of UAs and the clinical characteristics of such patients. UAs were reported by 81 patients (45.8%), ocular symptoms alone or in combination with nasal symptoms being the most frequent. The headache was more severe (P <0.0002) and more strictly unilateral (P <0.0004) in patients who reported UAs than in those without. Thus, the presence of UAs suggests an activation of the trigeminal-autonomic reflex, probably related to an over-activation of the trigeminal afferent arm. These findings could have therapeutic implications, given the potential large-scale recruitment of peripheral neurovascular 5-HT1B/1D receptors (the target of acute migraine treatment) in such patients. [ABSTRACT FROM AUTHOR]

Published
2002
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199. Migraine and the extrapyramidal system.

Author

Barbanti, P and Fabbrini, G

Subjects
*MIGRAINE, *EXTRAPYRAMIDAL disorders, *MIGRAINE diagnosis, *BASAL ganglia diseases, *DRUGS, *NEUROTRANSMITTERS, *NOCICEPTORS, *DIAGNOSIS
Abstract

This review explores a large series of observations from clinical and experimental studies on the interactions between migraine and the extrapyramidal system (EPS). A critical appraisal of these data suggests that the EPS is somehow involved in migraine. However, primary involvement of the EPS in the pathophysiology of migraine, as hinted at by the apparent concomitance of migraine, extrapyramidal symptoms and diseases, as well as by the common involvement of neurotransmitters and pathways, cannot as yet be proven. On the other hand, the involvement of EPS in migraine may reflect its more general role in the processing of nociceptive information and/or may be part of the complex behavioural adaptive response that characterizes migraine. [ABSTRACT FROM AUTHOR]

Published
2002
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200. Clinical diagnosis of multiple system atrophy: level of agreement between Quinn's criteria and the consensus conference guidelines.

Author

Colosimo, C., Vanacore, N., Bonifati, V., Fabbrini, G., Rum, A., De Michele, G., De Mari, M., Bonuccelli, U., Nicholl, D. J., and Meco, G.

Subjects
NEUROLOGICAL disorders, NEUROLOGY
Abstract

Presents a letter which focused on the clinical diagnosis of multiple system atrophy (MSA). Neurogenerative diseases and neuropathology characterized by MSA; Assessment of Quinn's proposed diagnostic criteria for MSA: Types of MSA symptoms; Discussion on two clinical diagnostic categories including possible and probable MSA; Guidelines issued by the Consensus Conference for MSA.

Published
2001
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