✦ LIBER ✦

Spinocerebellar ataxia type 2 in southern Italy: a clinical and molecular study of 30 families

✍ Scribed by A. Filla; G. De Michele; L. Santoro; O. Calabrese; I. Castaldo; S. Giuffrida; D. Restivo; L. Serlenga; D. F. Condorelli; U. Bonuccelli; R. Scala; G. Coppola; G. Caruso; S. Cocozza

Publisher: Springer
Year: 1999
Tongue: English
Weight: 57 KB
Volume: 246
Category: Article
ISSN: 0340-5354
DOI: 10.1007/s004150050385

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Clinical and genetic study of a family w

Clinical and genetic study of a family with spinocerebellar ataxia type 1 (SCA1) and beta-thalassemia

✍ V. Pietrini; M. Godani; S. Calzetti; A. Negrotti; B. Castellotti; M. C. Riggio; 📂 Article 📅 1998 🏛 Springer Milan 🌐 English ⚖ 524 KB

A clinical and genetic study in a large

A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6

✍ Hiroki Takahashi; Kinya Ishikawa; Takeshi Tsutsumi; Hiroto Fujigasaki; Akihiro K 📂 Article 📅 2004 🏛 Nature Publishing Group 🌐 English ⚖ 237 KB

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

CAG repeat length and clinical features

CAG repeat length and clinical features in three Italian families with spinocerebellar ataxia type 2 (SCA2): early impairment of Wisconsin Card Sorting Test and saccade velocity

✍ A. Gambardella; G. Annesi; F. Bono; P. Spadafora; P. Valentino; A. A. Pasqua; R. 📂 Article 📅 1998 🏛 Springer 🌐 English ⚖ 82 KB

Phenotype variability in spinocerebellar

Phenotype variability in spinocerebellar ataxia type 2: A longitudinal family survey and a case featuring an unusual benign course of disease

✍ Sascha Hering; Clemens Achmüller; Andrea Köhler; Werner Poewe; Raine Schneider; 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 457 KB

## Abstract We report a 67 years old female patient out of a multigenerational family with spinocerebellar ataxia type 2 (SCA2) with an unusually benign course of disease. Although all SCA2 gene carriers have by now developed the predominant gait ataxia and brainstem oculomotor dysfunction, the ind

Lack of mutations in spinocerebellar ata

Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (ethnic Chinese) cohort of familial and early-onset parkinsonism

✍ Chin-Hsien Lin; Wuh-Liang Hwu; Shu-Chuan Chiang; Chun-Hwei Tai; Ruey-Meei Wu 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 95 KB 👁 2 views

## Abstract Recent reports suggest that CAG triplet expansions of spinocerebellar ataxia type 2 and 3 (__SCA2__ and __SCA3__) genes are the cause of typical levodopa‐responsive Parkinson's disease (PD) in familial cases, several of which were ethnic Chinese. To investigate the role of __SCA2__ and