目的 探讨STUB1基因变异所致常染色体隐性脊髓小脑共济失调16型患者的临床特点进而提高临床医生对该病的认识。 方法 收集山东大学齐鲁医院2022年5月确诊的1例常染色体隐性脊髓小脑共济失调16型患者的临床资料、辅助检查和基因检测结果，同时结合相关文献复习，对该类疾病的临床及遗传学特点进行总结。 结果 先证者为35岁男性，临床表现为步态不稳和构音障碍。头颅磁共振检查可见小脑萎缩。二代测序发现患者STUB1基因存在c。322dupG（p。Glu108Glyfs*4）和c。433A>C（p。Lys145Gln）复合杂合突变（参考转录本NM_005861。4）。其中c。322dupG（p。Glu108Glyfs*4）为新突变。家系验证结果显示2个突变分别来自先证者表型正常的父母。通过文献复习检索到既往共12篇外文文献报道的32例常染色体隐性遗传脊髓小脑共济失调16型患者，未检索到相关中文文献报道。总结该病的主要临床表现为共济失调、构音障碍和腱反射亢进，还可伴有眼球震颤、痉挛状态、动作性震颤和肌阵挛等症状。头颅磁共振检查主要表现为小脑萎缩。 结论 STUB1基因变异所致常染色体隐性脊髓小脑共济失调16型在中国较罕见，以小脑共济失调为主要临床表现，影像学检查可见明显的小脑萎缩。基因检测有助于明确诊断。 Objective To discuss the clinical characteristics of autosomal recessive spinocerebellar ataxia type 16 patients caused by STUB1 gene mutation， in order to improve the clinical doctors′ understanding of the disease。 Methods The clinical manifestations， auxiliary examinations and genetic testing of 1 autosomal recessive spinocerebellar ataxia type 16 patient caused by STUB1 gene variants diagnosed in Qilu Hospital of Shandong University in May 2022 were collected， and the relevant literature was reviewed to summarize the clinical and genetic characteristics of this type of disease。 Results The proband was a 35-year-old male presenting with unsteady walk and dysarthria。 Magnetic resonance imaging showed cerebellar atrophy。 Next generation sequencing revealed compound heterozygous c。322dupG (p。Glu108Glyfs*4) and c。433A>C (p。Lys145Gln) variants in theSTUB1 gene (according to the transcript NM_005861。4)， and the c。322dupG (p。Glu108Glyfs*4) variant was a novel variant。 Pedigree verification revealed the 2 variants were respectively inherited from the proband′s healthy parents。 A total of 12 foreign literatures reported 32 autosomal recessive spinocerebellar ataxia type 16 patients。 The main clinical manifestations were ataxia， dysarthria and tendon hyperreflexia。 Besides， nystagmus， spasticity， action tremors， and myoclonus can be present。 Magnetic resonance imaging predominantly showed cerebellar atrophy。 Conclusions The patient with autosomal recessive spinocerebellar ataxia type 16 caused by STUB1 gene variant is rare in China。 The main clinical manifestation is cerebellar ataxia， and brain imaging reveals remarkable cerebellar atrophy。 Genetic testing is helpful for definite diagnosis。
A case of autosomal recessive spinocerebellar ataxia type 16 caused bySTUB1 gene variant and literature review
Objective To discuss the clinical characteristics of autosomal recessive spinocerebellar ataxia type 16 patients caused by STUB1 gene mutation, in order to improve the clinical doctors′ understanding of the disease. Methods The clinical manifestations, auxiliary examinations and genetic testing of 1 autosomal recessive spinocerebellar ataxia type 16 patient caused by STUB1 gene variants diagnosed in Qilu Hospital of Shandong University in May 2022 were collected, and the relevant literature was reviewed to summarize the clinical and genetic characteristics of this type of disease. Results The proband was a 35-year-old male presenting with unsteady walk and dysarthria. Magnetic resonance imaging showed cerebellar atrophy. Next generation sequencing revealed compound heterozygous c.322dupG (p.Glu108Glyfs*4) and c.433A>C (p.Lys145Gln) variants in theSTUB1 gene (according to the transcript NM_005861.4), and the c.322dupG (p.Glu108Glyfs*4) variant was a novel variant. Pedigree verification revealed the 2 variants were respectively inherited from the proband′s healthy parents. A total of 12 foreign literatures reported 32 autosomal recessive spinocerebellar ataxia type 16 patients. The main clinical manifestations were ataxia, dysarthria and tendon hyperreflexia. Besides, nystagmus, spasticity, action tremors, and myoclonus can be present. Magnetic resonance imaging predominantly showed cerebellar atrophy. Conclusions The patient with autosomal recessive spinocerebellar ataxia type 16 caused by STUB1 gene variant is rare in China. The main clinical manifestation is cerebellar ataxia, and brain imaging reveals remarkable cerebellar atrophy. Genetic testing is helpful for definite diagnosis.
STUB1 geneGenetic variationAutosomal recessive spinocerebellar ataxia type 16
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