A. Hentati et al., LINKAGE OF PURE AUTOSOMAL RECESSIVE FAMILIAL SPASTIC PARAPLEGIA TO CHROMOSOME-8 MARKERS AND EVIDENCE OF GENETIC-LOCUS HETEROGENEITY, Human molecular genetics, 3(8), 1994, pp. 1263-1267
'Pure' familial spastic paraplegias (FSP) are neurodegenerative disord
ers that are clinically characterized by progressive spasticity of the
lower limbs and are inherited as autosomal dominant (DFSP) or autosom
al recessive (RFSP) traits. The primary defect in FSP is unknown. Gene
tic linkage analysis was applied to five RFSP families from Tunisia. I
n four of these five families tight linkage of the RFSP locus was esta
blished to the chromosome 8 markers, D8S260, D8S166, D8S285, FLAT, and
D8S279. The RFSP locus in the fifth family was not linked to these ma
rkers which provided evidence of genetic locus heterogeneity in RFSF.
Identification of the RFSP gene on chromosome 8 will help in understan
ding the genetic factors in motor neuron degeneration.