Clinical and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5

Ming Ying Lan, TsH Yeh, Y. Y. Chang, H. C. Kuo, H S Sun, S. C. Lai, C. S. Lu

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Background and purpose: 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.

Original languageEnglish
Pages (from-to)211-214
Number of pages4
JournalEuropean Journal of Neurology
Volume22
Issue number1
DOIs
Publication statusPublished - Jan 1 2015
Externally publishedYes

Fingerprint

Hereditary Spastic Paraplegia
Paraplegia
Phenotype
Cerebellar Ataxia
Mutation
Magnetic Resonance Imaging
Founder Effect
Ethnic Groups
Haplotypes
Atrophy
Spinal Cord
Spine
Genes

Keywords

  • Carrier
  • CYP7B1
  • Hereditary spastic paraplegias
  • Mutation
  • SPG5

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Medicine(all)

Cite this

Clinical and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5. / Lan, Ming Ying; Yeh, TsH; Chang, Y. Y.; Kuo, H. C.; Sun, H S; Lai, S. C.; Lu, C. S.

In: European Journal of Neurology, Vol. 22, No. 1, 01.01.2015, p. 211-214.

Research output: Contribution to journalArticle

Lan, Ming Ying ; Yeh, TsH ; Chang, Y. Y. ; Kuo, H. C. ; Sun, H S ; Lai, S. C. ; Lu, C. S. / Clinical and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5. In: European Journal of Neurology. 2015 ; Vol. 22, No. 1. pp. 211-214.
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