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Abstract：
BACKGROUND: Spinocerebellar ataxia 29 (SCA29) is a rare genetic disorder characterized by early-onset ataxia, gross motor delay, and infantile hypotonia, and is primarily associated with variants in the ITPR1 gene. Cases of SCA29 in Asia are rarely reported, limiting our understanding of this disease.
METHODS: A female Korean infant, demonstrating clinical features of SCA29, underwent evaluation and rehabilitation at our outpatient clinic from the age of 3 months to the current age of 4 years. Trio-based genome sequencing tests were performed on the patient and her biological parents.
RESULTS: The infant initially presented with macrocephaly, hypotonia, and nystagmus, with nonspecific findings on initial neuroimaging. Subsequent follow-up revealed gross motor delay, early onset ataxia, strabismus, and cognitive impairment. Further neuroimaging revealed atrophy of the cerebellum and vermis, and genetic analysis revealed a de novo pathogenic heterozygous c.800C>T, p.Thr267Met missense mutation in the ITPR1 gene (NM_001378452.1).
CONCLUSIONS: This is the first reported case of SCA29 in a Korean patient, expanding the genetic and phenotypic spectrum of ITPR1-related ataxias. Our case highlights the importance of recognizing early-onset ataxic symptoms, central hypotonia, and gross motor delays with poor ocular fixation, cognitive deficits, and isolated cerebellar atrophy as crucial clinical indicators of SCA29.
METHODS: A female Korean infant, demonstrating clinical features of SCA29, underwent evaluation and rehabilitation at our outpatient clinic from the age of 3 months to the current age of 4 years. Trio-based genome sequencing tests were performed on the patient and her biological parents.
RESULTS: The infant initially presented with macrocephaly, hypotonia, and nystagmus, with nonspecific findings on initial neuroimaging. Subsequent follow-up revealed gross motor delay, early onset ataxia, strabismus, and cognitive impairment. Further neuroimaging revealed atrophy of the cerebellum and vermis, and genetic analysis revealed a de novo pathogenic heterozygous c.800C>T, p.Thr267Met missense mutation in the ITPR1 gene (NM_001378452.1).
CONCLUSIONS: This is the first reported case of SCA29 in a Korean patient, expanding the genetic and phenotypic spectrum of ITPR1-related ataxias. Our case highlights the importance of recognizing early-onset ataxic symptoms, central hypotonia, and gross motor delays with poor ocular fixation, cognitive deficits, and isolated cerebellar atrophy as crucial clinical indicators of SCA29.
摘要：
背景：脊髓小脑性共济失调29（SCA29）是一种罕见的遗传性疾病，以早发性共济失调为特征，电机总延迟，和婴儿张力减退,并且主要与ITPR1基因的变异相关。亚洲的SCA29病例很少报告，限制了我们对这种疾病的理解。
方法：一名韩国女婴，显示SCA29的临床特征,从3个月至目前的4岁在我们的门诊接受了评估和康复.对患者及其亲生父母进行基于三重奏的基因组测序测试。
结果：婴儿最初表现为大头畸形，低张力,和眼球震颤,在初始神经影像学上有非特异性发现。随后的随访显示运动严重延迟，早发性共济失调,斜视,和认知障碍。进一步的神经影像学显示小脑和疣萎缩，遗传分析显示从头致病杂合c.800C>T，ITPR1基因中的p.Thr267Met错义突变(NM_001378452.1)。
结论：这是韩国首例SCA29病例，扩大ITPR1相关共济失调的遗传和表型谱。我们的案例强调了识别早发性共济失调症状的重要性，中枢低张力,和肉眼固定不良的运动延迟，认知缺陷,和孤立性小脑萎缩是SCA29的关键临床指标。
方法：一名韩国女婴，显示SCA29的临床特征,从3个月至目前的4岁在我们的门诊接受了评估和康复.对患者及其亲生父母进行基于三重奏的基因组测序测试。
结果：婴儿最初表现为大头畸形，低张力,和眼球震颤,在初始神经影像学上有非特异性发现。随后的随访显示运动严重延迟，早发性共济失调,斜视,和认知障碍。进一步的神经影像学显示小脑和疣萎缩，遗传分析显示从头致病杂合c.800C>T，ITPR1基因中的p.Thr267Met错义突变(NM_001378452.1)。
结论：这是韩国首例SCA29病例，扩大ITPR1相关共济失调的遗传和表型谱。我们的案例强调了识别早发性共济失调症状的重要性，中枢低张力,和肉眼固定不良的运动延迟，认知缺陷,和孤立性小脑萎缩是SCA29的关键临床指标。
