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

研究成果: 雜誌貢獻文章同行評審

8 引文 斯高帕斯(Scopus)

摘要

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.
原文英語
頁(從 - 到)211-214
頁數4
期刊European Journal of Neurology
22
發行號1
DOIs
出版狀態已發佈 - 1月 1 2015
對外發佈

ASJC Scopus subject areas

  • 神經病學(臨床)
  • 神經內科
  • 醫藥 (全部)

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