Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).
Ann Neurol.. 2005-01-01; 57(4): 567-571
DOI: 10.1002/ana.20416
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1. Ann Neurol. 2005 Apr;57(4):567-71.
Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).
Bouslam N(1), Benomar A, Azzedine H, Bouhouche A, Namekawa M, Klebe S, Charon C,
Durr A, Ruberg M, Brice A, Yahyaoui M, Stevanin G.
Author information:
(1)INSERM U679 (former U289), Federative Institute for Neuroscience Research
(IFR70), Salpetriere Hospital, Paris, France.
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.
DOI: 10.1002/ana.20416
PMID: 15786464 [Indexed for MEDLINE]