𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients

✍ Scribed by Hélio A.G. Teive; Renato P. Munhoz; Salmo Raskin; Walter O. Arruda; Luciano de Paola; Lineu C. Werneck; Tetsuo Ashizawa

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
958 KB
Volume
25
Category
Article
ISSN
0885-3185

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder caused by an ATTCT repeat intronic expansion in the SCA10 gene. SCA 10 has been reported in Mexican, Brazilian, Argentinean and Venezuelan families. Its phenotype is overall characterized by cerebellar ataxia and epilepsy. Interestingly, Brazilian patients reported so far showed pure cerebellar ataxia, without epilepsy. Here, authors provide a systematic analysis of the presence, frequency and electroencephalographic presentation of epilepsy among 80 SCA10 patients from 10 Brazilian families. Overall, the frequency of epilepsy was considered rare, been found in 3.75 % of the cases while this finding in populations from other geographic areas reaches 60% of SCA10 cases. © 2010 Movement Disorder Society

📜 SIMILAR VOLUMES

Frequency analysis and clinical characte
Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients
✍ Nataša T. Dragašević; Biljana Čuljković; Christine Klein; Aleksandar Ristić; Mil 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 62 KB

## Abstract The relative frequencies of different spinocerebellar ataxias (SCAs) vary widely among different ethnic groups, presumably due to a founder effect. We investigated the relative prevalence of SCA1–3, 6–8, 12, 17; dentate–rubro–pallidoluysian atrophy; and Friedreich's ataxia (FRDA) in Ser

Presence of spinocerebellar ataxia type
Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: Clinical implications
✍ Din-E Shan; Ren-Shyan Liu; Chen-Ming Sun; Shwn-Jen Lee; Kwong-Kum Liao; Bing-Wen 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 65 KB

## Abstract Among 242 patients with apparently sporadic Parkinson's disease, a 70‐year‐old man with a CAG repeat number of 37 in the __SCA2__ gene was identified. He has remained responsive to levodopa 14 years after onset and has had no overt signs suggesting cerebellar dysfunction. Although it is