| Literature DB >> 15786464 |
Naima Bouslam1, Ali Benomar, Hamid Azzedine, Ahmed Bouhouche, Michito Namekawa, Stephan Klebe, Céline Charon, Alexandra Durr, Merle Ruberg, Alexis Brice, Mohamed Yahyaoui, Giovanni Stevanin.
Abstract
Pure hereditary spastic paraplegias are characterized by isolated and progressive spasticity in the lower limbs. We mapped the spastic paraplegia 28 (SPG28) locus to chromosome 14q21.3-q22.3 in a Moroccan family with autosomal recessive hereditary spastic paraplegia. Affected patients experienced development of progressive spastic gait during childhood and required help walking in their early 40s. Nine additional hereditary spastic paraplegia families were not linked to this locus, demonstrating further genetic heterogeneity. No mutations were found in exons of GCH1 and SPG3A, two genes from the candidate region involved in movement disorders.Entities:
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Year: 2005 PMID: 15786464 DOI: 10.1002/ana.20416
Source DB: PubMed Journal: Ann Neurol ISSN: 0364-5134 Impact factor: 10.422