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SPTBN2와 연관된 spinocerebellar ataxia type 5를진단받은 환자

Other Titles
 A Patient Diagnosed with Spinocerebellar Ataxia Type 5 associated with SPTBN2: Case Repor 
 허민우  ;  고아라  ;  이현주  ;  이진성  ;  강훈철 
 Journal of the Korean Child Neurology Society (대한소아신경학회지), Vol.25(3) : 200-203, 2017 
Journal Title
 Journal of the Korean Child Neurology Society (대한소아신경학회지) 
Issue Date
Spinocerebellar ataxia ; Spectrin beta non-erythrocytic 2 ; SPTBN2
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.
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1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Hoon Chul(강훈철) ORCID logo https://orcid.org/0000-0002-3659-8847
Ko, A Ra(고아라)
Lee, Jin Sung(이진성) ORCID logo https://orcid.org/0000-0002-1262-8597
Lee, Hyun Joo(이현주) ORCID logo https://orcid.org/0000-0002-1432-0449
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