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Autosomal recessive spinocerebellar ataxia 7

MONDO:0012235

Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner.

Also known as: SCAR7, autosomal recessive spinocerebellar ataxia type 7, spinocerebellar ataxia, autosomal recessive type 7, childhood onset autosomal recessive slowly progressive spinocerebellar ataxia, childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia, spinocerebellar ataxia autosomal recessive 7, spinocerebellar ataxia, autosomal recessive 7

30 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Neurodegenerative disease (155) Brain disorder (110) Central nervous system disorder (97) Movement disorder (89) Cerebellar ataxia (32) Human disease (14) Inherited neurodegenerative disorder (10)
Trials to join now! 15 Not yet recruiting 3 Not yet finished but already full! 5 Completed 7
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