A family case report of spinocerebellar ataxia 6
10.3969/j.issn.1002-0152.2025.02.008
- VernacularTitle:遗传性脊髓小脑性共济失调6型一家系病例报告
- Author:
Mengyu HE
1
;
Lijun LU
1
;
Yu TAN
1
;
Youqing DENG
1
Author Information
1. 南昌大学南昌市第一医院神经内科(南昌 330006)
- Publication Type:Journal Article
- Keywords:
Spinocerebellar ataxia type 6;
Clinical features;
MRI;
Cerebellar atrophy;
Genetic test;
Genetic an-ticipation;
Mechanism of thiazolidinedione;
Improvement of treaments
- From:
Chinese Journal of Nervous and Mental Diseases
2025;51(2):112-114
- CountryChina
- Language:Chinese
-
Abstract:
Spinocerebellar ataxia type 6(SCA6)is a group of autosomal dominant hereditary diseases characterized by cerebellar ataxia,with the typical feature of genetic anticipation.This study reports a family case of SCA6 to enhance understanding of the disease and improve clinical diagnosis rate.The patient was a 61-year-old male,presented mainly with slurred speech and unsteady gait,accompanied by dizziness,choking on drinking water,numbness of limbs,and insomnia.Evoked potential,nerve conduction studies,skin sympathetic responses,electroencephalogram,dementia rating scale,and other tests showed no significant abnormalities.Head MRI revealed marked cerebellar atrophy,and genetic testing confirmed SCA6.His father exhibited similar symptoms,while his daughter was a carrier of the abnormal gene.The patient received treatment including nutritional support,improvement of ataxia,and rehabilitation training.After a one-year follow-up,there was no significant progression of the disease.
