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Infantile onset spinocerebellar ataxia
- Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system. Babies with IOSCA develop normally during ... hypotonia, ataxia, hypacusis, and athetosis Genetic Testing ... Infantile-onset spinocerebellar ataxia Mitochondrial DNA depletion syndrome ...
- ... the TWNK gene have been found to cause infantile-onset spinocerebellar ataxia (IOSCA). The most common mutation replaces the protein ... Sajantila A, Lonnqvist T, Spelbrink JN, Suomalainen A. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with ...
- Cerebellar Disorders (National Library of Medicine)When you play the piano or hit a tennis ball you are activating the cerebellum. The cerebellum is the area of the brain that controls coordination and balance. ...
- ... de Warrenburg BP, Maat-Kievit AJ. Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). Hum ...
- ... swelling and coma. More About This Health Condition Spinocerebellar ataxia type 6 (SCA6) is another disorder caused by ... CACNA1A associated with mental retardation and epilepsy with infantile spasms. Epilepsia. 2009 Nov;50(11):2501-3. ...
