𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Molecular epidemiology of spinocerebellar ataxia type 6

✍ Scribed by Kate Craig; Sharon M. Keers; Kate Archibald; Ann Curtis; Patrick F. Chinnery

Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
246 KB
Volume
55
Category
Article
ISSN
0364-5134

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Dystonia in spinocerebellar ataxia type
Dystonia in spinocerebellar ataxia type 6
✍ Kapil D. Sethi; Joseph Jankovic πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 122 KB

## Abstract Spinocerebellar ataxias are heterogeneous disorders with overlapping clinical features. Spinocerebellar ataxia‐6 is a dominantly inherited condition characterized by relatively pure ataxia with a paucity of other manifestations including extrapyramidal findings. We report on two patient

Periodic alternating nystagmus and rebou
Periodic alternating nystagmus and rebound nystagmus in spinocerebellar ataxia type 6
✍ Takao Hashimoto; Osamu Sasaki; Kunihiro Yoshida; Yo-ichi Takei; Shu-ichi Ikeda πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 389 KB

## Abstract We report on a family with ataxia type 6 (SCA6) showing peculiar oculomotor symptoms. The proband presented with periodic alternating nystagmus (PAN), and her 2 brothers had rebound nystagmus and gaze‐evoked nystagmus. They carried the identical mutation (the number of expanded CAG repe

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 πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 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

Parkinsonism and nigrostriatal dysfuncti
Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6)
✍ Naheed L. Khan; Paola Giunti; Mary G. Sweeney; Christoph Scherfler; Michael O. B πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 132 KB

## Abstract SCA6 is a slowly progressive, late‐onset cerebellar ataxia due to a trinucleotide expansion in the __CACNA1A__ gene. We describe two unrelated cases that presented with Parkinsonism and cerebellar ataxia. One case was L‐dopa–responsive with a pattern of ^18^F‐dopa uptake similar to Park