Clinical features and genetic analysis of early-onset spinocerebellar ataxia type 5 caused by de novoSPTBN2 gene mutation
10.3760/cma.j.cn113694-20231127-00343
- VernacularTitle:SPTBN2基因新发变异致早发型脊髓小脑共济失调5型的临床特征与遗传学分析
- Author:
Guangjin LUO
1
;
Shuping TANG
;
Jiashan LI
;
Yang LI
;
Chong WANG
;
Leihong ZHANG
;
Jun CHEN
;
Aiyun YUAN
;
Mei HOU
;
Dianrong SUN
Author Information
1. 青岛大学附属妇女儿童医院儿童康复科，青岛 266034
- Keywords:
SPTBN2 gene;
Developmental disabilities;
Ataxia;
Cerebellar atrophy;
Rehabilitation
- From:
Chinese Journal of Neurology
2024;57(6):607-615
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To summarize the clinical and genetic characteristics of early-onset spinocerebellar ataxia type 5 (SCA5) caused by SPTBN2 gene mutation. Methods:The clinical and genetic data of a child with early-onset SCA5 diagnosed in the Department of Children′s Rehabilitation, Women and Children′s Hospital Affiliated to Qingdao University in February 2022 were retrospectively analyzed. The literatures related to early-onset SCA5 in major databases at home and abroad were retrieved and summarized.Results:The patient, a 4 years and 1 month old girl, was admitted to hospital because of "unable to stand independently at 2 years and 3 months", primarily presented with developmental delay, ataxia, hypotonia, and tendon hyperreflexia during infancy. Progressive cerebellar atrophy was observed on brain magnetic resonance imaging. A de novo heterozygous mutation of the SPTBN2 c.793G>C(p.Asp265His) was identified in the patient. Following hospitalization, the child received comprehensive rehabilitation therapy encompassing physical, occupational, language, educational interventions as well as bicycle ergometer training and transcranial magnetic stimulation. The patient was followed-up for more than 1 year to 4 years and 1 month old, whose motor function, cognitive abilities, and language skills were improved to some extent. A total of 13 English articles and 1 Chinese article were retrieved from the databases. A total of 20 early-onset SCA5 patients have been reported, with onset ages all within 12 months. Infants exhibited decreased muscle tone and delayed motor milestones, with the main clinical manifestations of ataxia, generalized developmental delay, and cerebellar atrophy. The previously reported cases involved 11 mutation sites in the SPTBN2 gene, and the main types of mutations were de novo missense mutations. The mutation site in this case has not been reported in the previous literature. Conclusions:Early-onset SCA5 is a rare autosomal dominant disorder caused by heterozygous mutations in the SPTBN2 gene. The main clinical manifestations include ataxia from infancy, developmental retardation and cerebellar atrophy. Early rehabilitation intervention can improve the degree of the dysfunction.
