title: A novel splicing mutation (c.870+3A>G) in SPG4 in a Korean family with hereditary spastic paraplegia.
abstract: Hereditary spastic paraplegia (HSP) is a group of genetically heterogenous neurodegenerative disorders characterized by progressive spasticity and weakness of both lower extremities. Herein, we report a novel splicing mutation (c.870+3A>G) in SPG4 in a Korean family with an autosomal dominant-inherited pure HSP. The mutation is located in intron 5, and results in a deletion of the 188bp-sized exon 5. It is likely that the exon 5 deletion leads to spastin dysfunction and cause the typical symptoms and signs of patients.
authors: Department of Neurology, Seoul National University Hospital, Seoul, 28 Yeongeon-dong, Jongno-gu, Seoul 110-744, Republic of Korea.
authors: Jae-Sung
authors: JS
authors: Lim
authors: Jung-Joon
authors: JJ
authors: Sung
authors: Yoon-Ho
authors: YH
authors: Hong
authors: Seoung-Sup
authors: SS
authors: Park
authors: Kyung-Seok
authors: KS
authors: Park
authors: Jeong-In
authors: JI
authors: Cha
authors: Jee-Young
authors: JY
authors: Lee
authors: Kwang-Woo
authors: KW
authors: Lee
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D017668:Age of Onset; D017398:Alternative Splicing / Q000235:genetics; D044466:Asian People; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D007438:Introns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D056910:Republic of Korea; D015419:Spastic Paraplegia, Hereditary / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism; D000074181:Spastin
chemical_list: D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human