- •We presented a Chinese HSP family with exon 8–17 deletions of the SPAST gene.
- •The patients with deletions of exons in the SPAST gene showed pure HSP.
- •Age at onset of the patients with exon deletion of the SPAST gene showed variations.
- •Exon deletion should be examined routinely in HSP patients.
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurodegenerative disorders. SPG4 is the most common autosomal dominant form of HSP subtypes and is caused by mutations of the SPAST gene. Here we reported a Chinese family with HSP caused by deletion of exons 8–17 of the SPAST gene and reviewed the clinical phenotypes of patients with exon deletion that were reported in literatures. The patients with deletions of exons in the SPAST gene showed pure HSP, and the age at onset showed interfamily and intrafamily variations. This study suggests that exon deletion should be examined routinely in patients who are clinically diagnosed with HSP.
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Published online: July 03, 2015
Accepted: July 1, 2015
Received in revised form: June 30, 2015
Received: June 3, 2015
© 2015 Elsevier B.V. Published by Elsevier Inc. All rights reserved.