𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Novel mutation in theSPASTgene in a patient with spastic paraparesis

✍ Scribed by M. D. I. Vergouwen; E. A. Sistermans; F. Baas; J. H. Koelman; M. de Visser


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

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Clinical signs and symptoms in a large h
✍ Anthony P. Nicholas; Elizabeth O'Hearn; Susan E. Holmes; Dung-Tsa Chen; Russell πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 108 KB

## Abstract The most common form of autosomal dominant hereditary spastic paraparesis (HSP), SPG4, is caused by mutations in the spastin gene on chromosome 2p. This disease is characterized by intra‐ and interfamilial phenotypic variation. To determine the predictive values of clinical signs and sy

Novel GFAP mutation in patient with adul
✍ Hiroyuki Kaneko; Masaki Hirose; Shinichi Katada; Toshiaki Takahashi; Satoshi Nar πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 402 KB

## Legends to the Video Cerebrotendinous xanthomatosis patient with jaw opening dystonia, which improves with a sensory geste. Bilteral dysmetria, normal extraocular movements, spastic gait, hyperreflexia, and upgoing toes are present. Achilles tendon xanthomas are demonstrated.