Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

S. Klebe
Brain. 2006-04-13; 129(6): 1456-1462
DOI: 10.1093/brain/awl012

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1. Brain. 2006 Jun;129(Pt 6):1456-62. Epub 2006 Jan 24.

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory
neuropathy maps to chromosome 2q37.3.

Klebe S(1), Azzedine H, Durr A, Bastien P, Bouslam N, Elleuch N, Forlani S,
Charon C, Koenig M, Melki J, Brice A, Stevanin G.

Author information:
(1)INSERM U679, Federative Institute for Neuroscience Research (IFR70),
Salpetriere Hospital, Paris, France.

The hereditary spastic paraplegias (HSPs) are a clinically and genetically
heterogeneous group of neurodegenerative diseases characterized by progressive
spasticity in the lower limbs. Twenty-nine different loci (SPG) have been mapped
so far, and 11 responsible genes have been identified. Clinically, one
distinguishes between pure and complex HSP forms which are variably associated
with numerous combinations of neurological and extra-neurological signs. Less is
known about autosomal recessive forms (ARHSP) since the mapped loci have been
identified often in single families and account for only a small percentage of
patients. We report a new ARHSP locus (SPG30) on chromosome 2q37.3 in a
consanguineous family with seven unaffected and four affected members of Algerian
origin living in Eastern France with a significant multipoint lod score of 3.8.
Ten other families from France (n = 4), Tunisia (n = 2), Algeria (n = 3) and the
Czech Republic (n = 1) were not linked to the newly identified locus thus
demonstrating further genetic heterogeneity. The phenotype of the linked family
consists of spastic paraparesis and peripheral neuropathy associated with slight
cerebellar signs confirmed by cerebellar atrophy on one CT scan.

DOI: 10.1093/brain/awl012
PMID: 16434418 [Indexed for MEDLINE]

Auteurs Bordeaux Neurocampus