Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity
✍ Scribed by Hammer, Monia B.; Eleuch-Fayache, Ghada; Schottlaender, Lucia V.; Nehdi, Houda; Gibbs, J. Raphael; Arepalli, Sampath K.; Chong, Sean B.; Hernandez, Dena G.; Sailer, Anna; Liu, Guoxiang; Mistry, Pramod K.; Cai, Huaibin; Shrader, Ginamarie; Sassi, Celeste; Bouhlal, Yosr; Houlden, Henry; Hentati, Fayçal; Amouri, Rim; Singleton, Andrew B.
- Book ID
- 120166446
- Publisher
- American Society of Human Genetics
- Year
- 2013
- Tongue
- English
- Weight
- 601 KB
- Volume
- 92
- Category
- Article
- ISSN
- 0002-9297
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## Abstract Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is an inherited neurodegenerative disorder characterized by early‐onset, spastic ataxia and peripheral neuropathy. It was originally described in an inbred population of Quebec and later in some other countries. We repor