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Ann Child Neurol > Volume 25(3); 2017 > Article
Journal of the Korean Child Neurology Society 2017;25(3):200-203.
DOI: https://doi.org/10.26815/jkcns.2017.25.3.200    Published online September 30, 2017.
A Patient Diagnosed with Spinocerebellar Ataxia Type 5 associated with SPTBN2: Case Report.
Min woo Hur, Ara Ko, Hyun Joo Lee, Jin Sung Lee, Hoon Chul Kang
1Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea. hipo0207@yuhs.ac
2Department of Clinical Genetics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea.
Spinocerebellar ataxias (SCAs) are autosomal dominant neurodegenerative disorders which disrupt the afferent and efferent pathways of the cerebellum that cause cerebellar ataxia. Spectrin beta non-erythrocytic 2 (SPTBN2) gene encodes the β-III spectrin protein with high expression in Purkinje cells that is involved in excitatory glutamate signaling through stabilization of the glutamate transporter, and its mutation is known to cause spinocerebellar ataxia type 5. Three years and 5 months old boy with delayed development showed leukodystrophy and cerebellar atrophy in brain magnetic resonance imaging (MRI). Diagnostic exome sequencing revealed that the patient has heterozygous mutation in SPTBN2 (p.Glu1251Gln) which is a causative genetic mutation for spinocerebellar ataxia type 5. With the patient's clinical findings, it seems reasonable to conclude that p.Glu1251Gln mutation of SPTBN2 gene caused spinocerebellar ataxia type 5 in this patient.
Key Words: Spinocerebellar ataxia, Spectrin beta non-erythrocytic 2, SPTBN2


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