title: Clinical and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5.
abstract: OBJECTIVE
  Spastic paraplegia type 5 (SPG5) is an autosomal recessive (AR) hereditary spastic paraplegia (HSP) associated with pure or complicated phenotypes. This study aimed to screen SPG5 in Taiwanese HSP patients.
  
  
  METHODS
  Sequencing of the SPG5 gene, CYP7B1, was performed in a cohort of 25 ethnic Han Taiwanese patients with AR or sporadic HSP. Clinical information and magnetic resonance imaging (MRI) were analyzed in confirmed SPG5 patients.
  
  
  RESULTS
  One (33%) AR kindred and four (18%) sporadic cases had CYP7B1 mutations. All of the SPG5 cases carried the mutation c.334 C>T (R112X). Haplotype analysis suggested a 'founder effect' in ethnic Hans for this mutation. The phenotype was either pure or complicated by cerebellar ataxia. For the primary HSP phenotype, there were profound dorsal column sensory deficits in all patients. Spine MRI showed thoraco-lumbar cord atrophy in some patients.
  
  
  CONCLUSIONS
  Spastic paraplegia type 5 is a common cause of AR and sporadic HSPs that has a higher frequency in Taiwanese than in other ethnic groups. It is associated with a CYP7B1 founder mutation and its phenotype is characterized by pronounced dorsal column sensory loss, with cerebellar ataxia in some patients.
authors.affiliation: Center for Parkinson's Disease, Department of Neurology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan.
authors.forename: M-Y
authors.initials: MY
authors.lastname: Lan
authors.forename: T-H
authors.initials: TH
authors.lastname: Yeh
authors.forename: Y-Y
authors.initials: YY
authors.lastname: Chang
authors.forename: H-C
authors.initials: HC
authors.lastname: Kuo
authors.forename: H S
authors.initials: HS
authors.lastname: Sun
authors.forename: S-C
authors.initials: SC
authors.lastname: Lai
authors.forename: C-S
authors.initials: CS
authors.lastname: Lu
mesh_terms: D000293:Adolescent; D000328:Adult; D002524:Cerebellar Ataxia / Q000235:genetics; D000072474:Cytochrome P450 Family 7; D005260:Female; D018703:Founder Effect; D006239:Haplotypes; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D013250:Steroid Hydroxylases / Q000235:genetics*; D013624:Taiwan; D055815:Young Adult
chemical_list: D013250:Steroid Hydroxylases; D000072474:Cytochrome P450 Family 7; C499571:CYP7B1 protein, human
keywords: CYP7B1; SPG5; carrier; hereditary spastic paraplegias; mutation