Article
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.
American journal of human genetics - 7 Feb 2013
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
Abstract excerpt
Autosomal-recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders with more than 20 different forms currently recognized, many of which are also associated with increased tone and some of which have limb spasticity. Gaucher disease is a lysosomal storage disease resulting from a defect in the enzyme acid β-glucosidase 1. β-glucosidase 2 is an enzyme with similar...
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