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8
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Spinocerebellar ataxia 25
- ... LIKE 1; HDL1 HUNTINGTON DISEASE-LIKE 3; HDL3 SPINOCEREBELLAR ATAXIA 17; SCA17 HUNTINGTON ... Nat Clin Pract Neurol. 2007 Sep;3(9):517-25. doi: 10.1038/ncpneuro0606. Citation on PubMed Stevanin ...
- ... 1399-0004.2007.00910.x. Epub 2007 Sep 25. Citation on PubMed ... of spinocerebellar ataxia 3/Machado-Joseph disease. Neurol India. 2009 Sep- ...
- ... row. Normally, the CAG/CAA segment is repeated 25 to 42 times within the gene. ... disease-like 4 (HDL4) or spinocerebellar ataxia type 17 (SCA17). The features of this disorder ...
- ... Perrault syndrome with neurologic features. Neurology. 2014 Nov 25;83(22):2054-61. doi: ... ataxia is caused by recessive mutations in mitochondrial proteins ...
- ... with ocular motor apraxia and hypoalbuminemia SCAN2 SCAR1 Spinocerebellar ataxia with axonal neuropathy type 2 Spinocerebellar ataxia, recessive, non-Friedreich type 1 Genetic Testing Registry: ...
- ... with hypogonadism and choroidal dystrophy syndrome Chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism Spinocerebellar ataxia, hypogonadotropic hypogonadism, and ...
- ... TPP1 gene have also been found to cause spinocerebellar ataxia, autosomal recessive 7 (SCAR7), which is a condition ... Tests of TPP1 PubMed TRIPEPTIDYL PEPTIDASE I; TPP1 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7 NCBI Gene ClinVar Elleder ...
- ... and symptoms of the condition. FA FRDA Friedreich spinocerebellar ataxia Friedrich's ataxia Genetic Testing Registry: Friedreich ataxia ...