A case report of sporadic spinocerebellar ataxia type 23 / 中华神经科杂志

ABSTRACT

Spinocerebellar ataxias (SCAs), formerly known as autosomal dominant cerebellar ataxia, are a group of hereditary heterogeneous neurodegenerative disease that contains many subtypes. Spinocerebellar ataxia type 23 (SCA23), one type of SCAs, is caused by mutant prodynorphin (PDYN) gene. A 22-year-old patient was diagnosed with sporadic SCA23 due to gene detection, with a novel identified mutation, PDYN c.647C>T (p.P216L). Located in the dynorphin A-coding-region of PDYN gene, the pathogenic mechanism of the mutation may be relevant to the pathological changes caused by the variant including neurological dysfunction and death of cells. Mild improvement with the patient has been witnessed after active balance and speaking exercise.