𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Motor evoked potentials in the spinocerebellar ataxias type 1 and type 3

✍ Scribed by Ludger Schöls; Georgios Amoiridis; Mathias Langkafel; Stephan Schöls; Horst Przuntek

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
45 KB
Volume
20
Category
Article
ISSN
0148-639X

No coin nor oath required. For personal study only.

✦ Synopsis

Autosomal dominant cerebellar ataxias (ADCA) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by progressive cerebellar ataxia and a varying combination of pyramidal and extrapyramidal signs, peripheral neuropathy, external ophthalmoplegia, and dysphagia. Electrophysiological evaluation of ADCA resulted in contrary results similar to the large clinical variability of these diseases. Above all, motor evoked potentials (MEP) were inhomogeneous in hitherto defined subgroups and were not related to disease duration or other known factors. Recently, several gene loci responsible for ADCA have been described. For two genetically defined subtypes, spinocerebellar ataxia type 1 (SCA1) 9 and spinocerebellar ataxia type 3 (SCA3), 6,13 the diseasecausing mutations have been characterized as expanded trinucleotide (CAG) n repeats. SCA3 has been shown to be genetically identical to Machado-Joseph disease despite clinical differences. 11 However, SCA1 is clinically indistinguishable from SCA3, and affection of peripheral and central motor pathways is frequently found in both diseases. We investigated MEP in 7 SCA1 and 31 SCA3 patients and correlated MEP results with clinical and genetic data.

📜 SIMILAR VOLUMES

Early symptoms in spinocerebellar ataxia
Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6
✍ Christoph Globas; Sophie Tezenas du Montcel; Laslo Baliko; Syliva Boesch; Chanta 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 159 KB

## Abstract Onset of genetically determined neurodegenerative diseases is difficult to specify because of their insidious and slowly progressive nature. This is especially true for spinocerebellar ataxia (SCA) because of varying affection of many parts of the nervous system and huge variability of

Stiff man–like syndrome and generalized
Stiff man–like syndrome and generalized myokymia in spinocerebellar ataxia type 3
✍ José Berciano; Jon Infante; Antonio García; Carmen De Pablos; Guillermo Amer; Jo 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 156 KB

## Abstract We describe the novel association of spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) phenotype combining classical clinical presentation and semeiology mimicking stiff man syndrome (SMS). The studied pedigree comprises seven affected members in three generations. Their c

Spinocerebellar ataxia types 2 and 3 seg
Spinocerebellar ataxia types 2 and 3 segregating simultaneously in a single family
✍ Marcondes C. França Jr; Maria E. Calcagnotto; Jaderson C. Da Costa; Iscia Lopes- 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 49 KB

## Abstract Spinocerebellar ataxia (SCA) types 2 and 3 are autosomal‐dominant neurodegenerative disorders caused by mutations in two different genes. We identified mutations for __SCA2__ and __SCA3__ segregating simultaneously in a single Brazilian family. The index patient had __SCA2__, whereas he