title: Exon 8-17 deletions of SPAST in a Chinese family with hereditary spastic paraplegia: a case report and literature review.
abstract: Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurodegenerative disorders. SPG4 is the most common autosomal dominant form of HSP subtypes and is caused by mutations of the SPAST gene. Here we reported a Chinese family with HSP caused by deletion of exons 8-17 of the SPAST gene and reviewed the clinical phenotypes of patients with exon deletion that were reported in literatures. The patients with deletions of exons in the SPAST gene showed pure HSP, and the age at onset showed interfamily and intrafamily variations. This study suggests that exon deletion should be examined routinely in patients who are clinically diagnosed with HSP.
authors.affiliation: Department of Neurology, First Affiliated Hospital, School of Medicine, Zhejiang University, Zhejiang 310009, China.
authors.forename: Kang
authors.initials: K
authors.lastname: Wang
authors.affiliation: Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Zhejiang 310009, China. Electronic address: zhaoguohuazq@hotmail.com.
authors.forename: Guohua
authors.initials: G
authors.lastname: Zhao
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D017384:Sequence Deletion / Q000235:genetics*; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis* / Q000235:genetics*; D000074181:Spastin
chemical_list: D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human
keywords: Chinese; Exon deletion; Hereditary spastic paraplegia; Review; SPAST; World-wide