A case of autosomal recessive spinocerebellar ataxia type 16 caused by STUB1 gene variant and literature review
10.3760/cma.j.cn113694-20230911-00144
- VernacularTitle:STUB1基因变异致常染色体隐性遗传脊髓小脑共济失调16型1例并文献复习
- Author:
Guangyu WANG
1
;
Haoyang LIU
;
Shengjun WANG
;
Chuanzhu YAN
;
Pengfei LIN
Author Information
1. 山东大学齐鲁医院神经内科，济南 250012
- Keywords:
STUB1 gene;
Genetic variation;
Autosomal recessive spinocerebellar ataxia type 16
- From:
Chinese Journal of Neurology
2024;57(3):266-272
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To discuss the clinical characteristics of autosomal recessive spinocerebellar ataxia type 16 patients caused by STUB1 gene mutation, in order to improve the clinical doctors′ understanding of the disease. Methods:The clinical manifestations, auxiliary examinations and genetic testing of 1 autosomal recessive spinocerebellar ataxia type 16 patient caused by STUB1 gene variants diagnosed in Qilu Hospital of Shandong University in May 2022 were collected, and the relevant literature was reviewed to summarize the clinical and genetic characteristics of this type of disease. Results:The proband was a 35-year-old male presenting with unsteady walk and dysarthria. Magnetic resonance imaging showed cerebellar atrophy. Next generation sequencing revealed compound heterozygous c.322dupG (p.Glu108Glyfs *4) and c.433A>C (p.Lys145Gln) variants in the STUB1 gene (according to the transcript NM_005861.4), and the c.322dupG (p.Glu108Glyfs *4) variant was a novel variant. Pedigree verification revealed the 2 variants were respectively inherited from the proband′s healthy parents. A total of 12 foreign literatures reported 32 autosomal recessive spinocerebellar ataxia type 16 patients. The main clinical manifestations were ataxia, dysarthria and tendon hyperreflexia. Besides, nystagmus, spasticity, action tremors, and myoclonus can be present. Magnetic resonance imaging predominantly showed cerebellar atrophy. Conclusions:The patient with autosomal recessive spinocerebellar ataxia type 16 caused by STUB1 gene variant is rare in China. The main clinical manifestation is cerebellar ataxia, and brain imaging reveals remarkable cerebellar atrophy. Genetic testing is helpful for definite diagnosis.
