2. Academic Validation
  3. Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28)

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28)

  • Ann Neurol. 2005 Apr;57(4):567-71. doi: 10.1002/ana.20416.
Naima Bouslam 1,  Ali Benomar,  Hamid Azzedine,  Ahmed Bouhouche,  Michito Namekawa,  Stephan Klebe,  Céline Charon,  Alexandra Durr,  Merle Ruberg,  Alexis Brice,  Mohamed Yahyaoui,  Giovanni Stevanin
Affiliations

Affiliation

  • 1 INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpetriere Hospital, Paris, France. brice@ccr.jussieu.fr
PMID: 15786464 DOI: 10.1002/ana.20416
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.

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