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Clinical, genetic, and neuroimaging profiles of autosomal recessive spinocerebellar ataxia type 4 caused by novel VPS13D variants in Chinese

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收录情况： ◇ SCIE

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机构： [1]Department of Neurology and Neurobiology, Xuanwu Hospital of Capital Medical University, Beijing, China.

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关键词： novel variant SCAR4 thoracic myelatrophy tremor VPS13D

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Autosomal recessive spinocerebellar ataxias (SCARs) are a heterogeneous group of neurodegenerative disorders. VPS13D gene is currently the only gene associated with autosomal recessive spinocerebellar ataxia type 4 (SCAR4), also known as VPS13D dyskinesia. SCAR4 is a rare inherited disease, with only 34 reported cases reported worldwide. In this study, we reported three independent SCAR4 cases with adolescent onsets caused by five novel variants of the VPS13D gene. Each patient carried one frameshift and one missense variant: Patient 1 with c.10474del and c.9734C > A (p.Leu3492Tyrfs*43 and p.Thr3245Asn), Patient 2 with c.6094_6107delGTTCTCTTGATCCC and c.9734C > A (p.Val2032Argfs*7 and p.Thr3245Asn), and Patient 3 with c.11954_11963del and c.9833 T > G (p.Phe3985Serfs*10 and p.Ile3278Ser). Two of the three patients shared nystagmus with an identical variant c.9734C > A. Magnetic resonance imaging indicated thoracic spinal atrophy in all three patients and corpus callosum atrophy in one patient, along with other typical manifestations of white matter degradation, cerebral atrophy, and cerebellar atrophy. These findings expanded the genetic, clinical, and neuroimaging spectrum of SCAR4, and provided new insights into the genetic counseling, molecular mechanisms, and differential diagnosis of the disease.© 2024 Wiley Periodicals LLC.

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出版当年[2023]版：

大类 | 4 区生物学

小类 | 4 区遗传学

最新[2023]版：

大类 | 4 区生物学

小类 | 4 区遗传学

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出版当年[2022]版：

Q3 GENETICS & HEREDITY

最新[2023]版：

Q3 GENETICS & HEREDITY

影响因子： 1.7 最新[2023版] 2.2 最新五年平均 2 出版当年[2022版] 2.5 出版当年五年平均 2.578 出版前一年[2021版] 1.7 出版后一年[2023版]

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第一作者机构： [1]Department of Neurology and Neurobiology, Xuanwu Hospital of Capital Medical University, Beijing, China.

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