散发型脊髓小脑性共济失调23型一例

A case report of sporadic spinocerebellar ataxia type 23

脊髓小脑性共济失调旧称常染色体显性遗传性小脑性共济失调,是一种遗传异质性神经退行性疾病,包含多种亚型。脊髓小脑性共济失调23型属于其中一型,致病基因为突变的前强啡肽原(PDYN)基因。现报道1例22岁的散发型脊髓小脑性共济失调23型患者,经基因检测发现PDYN基因的一种新型突变,为c.647C>T(p.P216L)。该突变位于PDYN基因的强啡肽A编码区,其致病机制可能与突变体所导致的功能异常相关。该患者经过平衡和言语的功能锻炼后,症状稍有好转。

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.