𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Spinocerebellar ataxia type 7 presenting as Stargardt's disease

✍ Scribed by G. Tsivgoulis; S. Vassilopoulou; K. Rallis; N. Markomichelakis; K. Spengos


Publisher
Springer
Year
2007
Tongue
English
Weight
161 KB
Volume
255
Category
Article
ISSN
0340-5354

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Dystonia as a presenting sign of spinoce
✍ Yih-Ru Wu; Guey-Jen Lee-Chen; Anthony E. Lang; Chiung-Mei Chen; Hsuan-Yuan Lin; πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 514 KB

## Abstract We report on a 39‐year‐old man who presented initially with marked blepharospasm, oromandibular dystonia and retrocollis and one year later developed mild ataxia. Our findings suggest that dystonia can be a disabling presenting sign of SCA1 and support the clinical heterogeneity of SCA1

Focal dystonia as a presenting sign of s
✍ Johann M. Hagenah; Christine ZΓΌhlke; Yorck Hellenbroich; Wolfgang Heide; Christi πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 542 KB

We report on the clinical manifestation of spinocerebellar ataxia 17 (SCA17) in 3 members of a German family, in whom the pathological repeat expansion in the TATA-binding protein gene ranged from 53 to 55 repeats (normal: 29-42). The main clinical features were focal dystonia as presenting sign, fo