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A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1

✍ Scribed by Inge A. Meijer; Patrick Cossette; Julie Roussel; Melanie Benard; Sylvie Toupin; Guy A. Rouleau

Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
218 KB
Volume
56
Category
Article
ISSN
0364-5134

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✦ Synopsis

Abstract

The hereditary spastic paraplegias (HSPs) are a group of clinically and genetically heterogeneous disorders characterized by progressive lower‐limb spasticity. In this study, we performed linkage analysis on an autosomal recessive pure HSP family and mapped the disease to chromosome 10q22.1‐10q24.1, a locus partially overlapping the existing SPG9 locus. We have either identified a novel locus for pure recessive HSP (SPG27), or we have found the first case of allelic disorders with different mode of inheritance in HSP. If the disorders are indeed allelic, our results have reduced the SPG9 interval by 3Mb with D10S536 and D10S1758 as flanking markers. Ann Neurol 2004;56:579–582

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Hereditary spastic paraplegia is a clinically and genetically heterogeneous disorder characterized by progressive spasticity of the lower limbs. Seven loci for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) have already been mapped on chromosomes 14q, 2p, 15q, 8p, 12q, 19q, and 2q. W