- Novel Compound Heterozygous Mutations in the SYNE1 Gene in a Taiwanese Family: A Case Report and Literature Review
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Chia-Yan Kuo, Pei Shan Yu, Chih-Ying Chao, Chun-Chieh Wang, Wen-Lang Fan, Yih-Ru Wu
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J Mov Disord. 2023;16(2):202-206. Published online April 26, 2023
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DOI: https://doi.org/10.14802/jmd.22105
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 Abstract
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- Mutations in the synaptic nuclear envelope protein 1 (SYNE1) gene are associated with substantial clinical heterogeneity. Here, we report the first case of SYNE1 ataxia in Taiwan due to two novel truncating mutations. Our patient, a 53-year-old female, exhibited pure cerebellar ataxia with c.1922del in exon 18 and c. C3883T mutations in exon 31. Previous studies have indicated that the prevalence of SYNE1 ataxia among East Asian populations is low. In this study, we identified 27 cases of SYNE1 ataxia from 22 families in East Asia. Of the 28 patients recruited in this study (including our patient), 10 exhibited pure cerebellar ataxia, and 18 exhibited ataxia plus syndromes. We could not find an exact correlation between genotypes and phenotypes. Additionally, we established a precise molecular diagnosis in our patient’s family and extended the findings on the ethnic, phenotypic, and genotypic diversity of the SYNE1 mutational spectrum.
- A new phenotype of TUBB4A mutation in a family with adult-onset progressive spastic paraplegia and isolated hypomyelination leukodystrophy: A case report and literature review
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Pei‐Chen Hsieh, Pei Shan Yu, Wen-Lang Fan, Chun‐Chieh Wang, Chih-Ying Chao, Yih‐Ru Wu
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Received July 26, 2023 Accepted October 23, 2023 Published online October 23, 2023
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DOI: https://doi.org/10.14802/jmd.23142
[Accepted]
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Abstract
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- Tubulin Beta 4A Class IVa (TUBB4A) spectrum disorders have been reported as autosomal dominant dystonia type 4 or hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC syndrome). However, in rare cases, only mild hypomyelination in the cortex with no basal ganglia atrophy may be observed. We report a case of a family with TUBB4A mutation and complicated hereditary spasticity paraplegia (HSP). We performed quadro whole exome sequencing (WES) for the family to identify the causative gene of progressive spastic paraparesis with isolated hypomyelination leukodystrophy. We identified a novel TUBB4A p.F341L mutation, which was present in all three affected patients but was absent in the unaffected father. The affected patients presented with adult onset TUBB4A disorder, predominant spastic paraparesis with/without ataxia, and brain hypomyelination with no cognitive impairment and extrapyramidal symptoms. In the literature, HSP is considered a TUBB4A spectrum disorder.
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