脊髓小脑性共济失调14型1例病例汇报OA

Objective:To report one case of spinocerebellar ataxia type 14(SCA14)mainly presenting with involuntary limb movements and right limb weakness,and to explore the key points of diagnosis and differential diagnosis combined with clinical features,genetic testing and literature review.Methods:Clinical evaluation was performed in a 63-year-old female patient,including medical history collection,neurological examination,cerebrospinal fluid analysis,imaging examination and genetic sequencing,with relevant literature reviewed.Results:Two family members of the patient had presented involuntary limb movements manifested as progressive limb tremor.The family history suggested an autosomal dominant inheritance pattern.Genetic testing identified a missense mutation of the PRKCG gene(c.1234G>A,p.Gly412Arg),and the patient was finally diagnosed with SCA14.Symptomatic treatment and rehabilitation intervention achieved partial improvement of clinical symptoms.Conclusion:SCA14 shows strong clinical heterogeneity,characterized by tremor,dystonia and ataxia.Genetic testing is the key to definite diagnosis.Early recognition and intervention can delay functional decline,and genetic counseling is essential for risk assessment of family members.