A Novel SACS Variant Identified in a Chinese Patient: Case Report and Review of the Literature

Mutations in the gene have been linked to autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS). It is a clinically and genetically heterogeneous disease characterized by slow progressive ataxia, spasticity, sensorimotor neuropathy, and a combination of other manifestations, such as lac...

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Bibliographic Details
Published in:Frontiers in neurology 2022-03, Vol.13, p.845318
Main Authors: Chen, Yuchao, Lu, Xiaodong, Jin, Yi, Li, Dan, Ye, Xiaojun, Tao, Chenjuan, Zhou, Menglu, Jiang, Haibo, Yu, Hao
Format: Article
Language:English
Subjects:
autosomal recessive spastic ataxia of Charlevoix-Saguenay
Neurology
novel variant
SACS
spastic
whole-exome sequencing
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Summary:Mutations in the gene have been linked to autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS). It is a clinically and genetically heterogeneous disease characterized by slow progressive ataxia, spasticity, sensorimotor neuropathy, and a combination of other manifestations, such as lack of spasticity, hearing loss, and epileptic seizures. Currently, there have been very few case reports regarding the gene mutation in Chinese patients. Here, we describe a 35-year-old Chinese patient carrying a novel variant in (c.11486C>T) presenting with progressive ataxia and demyelinating peripheral neuropathy. We then reviewed 22 Chinese cases carrying gene mutations, including our patient. All of them had a cerebellar ataxia gait and showed cerebellar atrophy on brain magnetic resonance imaging (MRI). A total of 28 mutations were identified in these patients. Our study further expands the mutation spectrum of the gene and contributes to the evaluation of genotype-phenotype correlations.
ISSN:1664-2295
1664-2295
DOI:10.3389/fneur.2022.845318