Clinical and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5. (18th March 2014)

• Record Type: Journal Article
• Authors: Lan, M.‐Y.; Yeh, T.‐H.; Chang, Y.‐Y.; Kuo, H.‐C.; Sun, H. S.; Lai, S.‐C.; Lu, C.‐S.
• Is Part Of: European journal of neurology. Volume 22:Number 1(2015:Jan.)
• Page Start: 211
• Page End: 214
• Publication Date: 2014-03-18
• Subjects: Neurology -- Periodicals; Nervous system -- Diseases -- Periodicals; 616.8
• DOI: 10.1111/ene.12407
• Languages: English
• ISSNs: 1351-5101

Abstract

<abstract abstract-type="main" id="ene12407-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ene12407-sec-0001" sec-type="section"> <title>Background and purpose</title> <p>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.</p> </sec> <sec id="ene12407-sec-0002" sec-type="section"> <title>Methods</title> <p>Sequencing of the SPG5 gene, <italic>CYP7B1</italic>, 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.</p> </sec> <sec id="ene12407-sec-0003" sec-type="section"> <title>Results</title> <p>One (33%) AR kindred and four (18%) sporadic cases had <italic>CYP7B1</italic> 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.</p> </sec> <sec id="ene12407-sec-0004" sec-type="section"> <title>Conclusions</title> <p>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 <italic>CYP7B1</italic> founder mutation and its phenotype is characterized by pronounced dorsal column sensory loss, with cerebellar ataxia in some patients.</p> </sec> </abstract>