Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. - Archive ouverte HAL Access content directly
Journal Articles Brain - A Journal of Neurology Year : 2006

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

Stephan Klebe
  • Function : Author
Hamid Azzedine
  • Function : Author
Alexandra Durr
Patrick Bastien
  • Function : Author
Naima Bouslam
  • Function : Author
Nizar Elleuch
  • Function : Author
Sylvie Forlani
  • Function : Author
Celine Charon
  • Function : Author
Judith Melki
  • Function : Author
Alexis Brice
  • Function : Author
Giovanni Stevanin

Abstract

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.

Dates and versions

hal-00187989 , version 1 (15-11-2007)

Identifiers

Cite

Stephan Klebe, Hamid Azzedine, Alexandra Durr, Patrick Bastien, Naima Bouslam, et al.. Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.. Brain - A Journal of Neurology , 2006, 129 (Pt 6), pp.1456-62. ⟨10.1093/brain/awl012⟩. ⟨hal-00187989⟩
158 View
0 Download

Altmetric

Share

Gmail Facebook X LinkedIn More