A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21.
Neurology. 2007-05-21; 68(21): 1837-1840
DOI: 10.1212/01.wnl.0000262043.53386.22
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1. Neurology. 2007 May 22;68(21):1837-40.
A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome
14q12-q21.
Stevanin G(1), Paternotte C, Coutinho P, Klebe S, Elleuch N, Loureiro JL, Denis
E, Cruz VT, Dürr A, Prud’homme JF, Weissenbach J, Brice A, Hazan J.
Author information:
(1)INSERM U679, Federative Institute for Neuroscience Research (IFR70),
Pitié-Salpêtrière Hospital, Paris, France.
Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative disorders
characterized by progressive spasticity of the lower limbs. Here, we performed a
genome-wide linkage analysis on a consanguineous family presenting an autosomal
recessive form of HSP associated with mild mental retardation, brainstem
dysraphia, and clinically asymptomatic cerebellar atrophy. We have mapped the
disease locus SPG32 to chromosome 14q12-q21 within a 30-cM interval, which
excludes the atlastin gene.
DOI: 10.1212/01.wnl.0000262043.53386.22
PMID: 17515546 [Indexed for MEDLINE]