Clinical and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5
Article first published online: 18 MAR 2014
© 2014 The Author(s) European Journal of Neurology © 2014 EAN
European Journal of Neurology
Volume 22, Issue 1, pages 211–214, January 2015
How to Cite
Lan, M.-Y., Yeh, T.-H., Chang, Y.-Y., Kuo, H.-C., Sun, H. S., Lai, S.-C. and Lu, C.-S. (2015), Clinical and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5. European Journal of Neurology, 22: 211–214. doi: 10.1111/ene.12407
- Issue published online: 13 DEC 2014
- Article first published online: 18 MAR 2014
- Manuscript Accepted: 7 FEB 2014
- Manuscript Received: 31 OCT 2013
- Chang Gung Medical Foundation, Taiwan. Grant Number: BMRPG390041
- CYP7B1 ;
- hereditary spastic paraplegias;
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.
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.
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.
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.