J Korean Child Neurol Soc.  2017 Sep;25(3):200-203. 10.26815/jkcns.2017.25.3.200.

A Patient Diagnosed with Spinocerebellar Ataxia Type 5 associated with SPTBN2: Case Report

Affiliations
  • 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.

Abstract

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.

Keyword

Spinocerebellar ataxia; Spectrin beta non-erythrocytic 2; SPTBN2

MeSH Terms

Amino Acid Transport System X-AG
Atrophy
Brain
Cerebellar Ataxia
Cerebellum
Efferent Pathways
Exome
Glutamic Acid
Humans
Magnetic Resonance Imaging
Male
Neurodegenerative Diseases
Purkinje Cells
Spectrin
Spinocerebellar Ataxias*
Amino Acid Transport System X-AG
Glutamic Acid
Spectrin
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