𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Downbeat nystagmus in two siblings with spinocerebellar ataxia type 6 (SCA 6)

✍ Scribed by Hirotsugu Harada; Akira Tamaoka; Masahiko Watanabe; Kinnya Ishikawa; Shin'ichi Shoji


Book ID
119470121
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
204 KB
Volume
160
Category
Article
ISSN
0022-510X

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Periodic alternating nystagmus and rebou
✍ 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

Parkinsonism and nigrostriatal dysfuncti
✍ 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