Study on diagnosis and treatment of hereditary ataxia

Abstract

Hereditary ataxia (HA) is a clinically and genetically heterogeneous group of neurodegenerative disorders with high mortality and morbidity. It is characterized by progressive cerebellar ataxia of gait and limbs variably associated with ophthalmoplegia, pigmentary retinopathy, pyramidal and extrapyramidal signs, dementia and peripheral neuropathy. The molecular diagnosis process is proposed based on molecular classification. So far, symptomatic treatment is the mainly approach, with the lack of effective therapeutic method.

DOI：10.3969/j.issn.1672⁃6731.2012.03.008