SPTBN2와 연관된 spinocerebellar ataxia type 5를 진단받은 환자

• 영문명: A Patient Diagnosed with Spinocerebellar Ataxia Type 5 associated with SPTBN2: Case Report
• 발행기관: 대한소아신경학회
• 저자명: 허민우(Min woo Hur) 고아라(Ara Ko) 이현주(Hyun Joo Lee) 이진성(Jin Sung Lee) 강훈철(Hoon-Chul Kang)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제25권 제3호, 200~203쪽, 전체 4쪽
• 주제분류: 의약학 > 소아과학
• 파일형태: PDF
• 발행일자: 2017.07.30

영문 초록

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.

키워드

Spinocerebellar ataxia Spectrin beta non-erythrocytic 2 SPTBN2