Klivényi Péter, Szpisjak László, Salamon András, Németh Viola Luca, Szépfalusi Noémi, Maróti Zoltán, Kalmár Tibor, Zimmermann Aliz, Zádori Dénes
University of Szeged, Department of Neurology, Szeged.
University of Szeged, Genetic Diagnostic Laboratory, Department of Pediatrics and Pediatric Health Center, Szeged.
Ideggyogy Sz. 2023 Jan 30;76(1-2):63-72. doi: 10.18071/isz.76.0063.
Spinocerebellar ataxia type 48 (SCA48) is an autosomal dominantly inherited disease characterized by gait and limb ataxia, cerebellar dysarthria, cognitive impairment, psychiatric abnormalities and variable types of movement disorders. To date, more than 30 STUB1 gene (NM_005861.4) mutations have been described in the genetic background of The aim of this short report was to demonstrate the first Hungarian SCA48 patient caused by a novel STUB1 missense mutation. The characteristics of detailed neurological phenotype, brain MRI and genetic assessment are presented and compared to previously published case. The most important neurological findings of the patient were gait ataxia, dysarthria, cognitive decline and psychiatric problems including depression, anxiety and mild impulsivity. The brain MRI demonstrated cerebellar atrophy with posterolateral predominance and frontal lobe cortical atrophy. Clinical exome sequencing examination identified the above-mentioned missense variant located in the significant ubiquitinase domain of the CHIP protein. In this paper the first Hungarian SCA48 patient was described with characteristic neuropsychiatric signs and brain MRI abnormalities, due to a novel STUB1 gene missense mutation.
48型脊髓小脑共济失调（SCA48）是一种常染色体显性遗传性疾病，其特征为步态和肢体共济失调、小脑性构音障碍、认知障碍、精神异常以及多种类型的运动障碍。迄今为止，在[未提及具体研究对象，推测为某个研究群体]的遗传背景中已描述了30多种STUB1基因（NM_005861.4）突变。本简短报告的目的是展示首例由新型STUB1错义突变引起的匈牙利SCA48患者。报告呈现了详细的神经表型、脑部MRI和基因评估特征，并与先前发表的病例进行了比较。该患者最重要的神经学表现为步态共济失调、构音障碍、认知衰退以及包括抑郁、焦虑和轻度冲动在内的精神问题。脑部MRI显示小脑萎缩以后外侧为主，额叶皮质萎缩。临床外显子组测序检查确定了上述位于CHIP蛋白重要泛素酶结构域的错义变异。本文描述了首例因新型STUB1基因错义突变而具有特征性神经精神体征和脑部MRI异常的匈牙利SCA48患者。
