Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15

Abstract

Our data suggest a new locus for recessive FSP linked to chromosome 15q, and that this may be the most common one.

Clinical Progression and Genetic Analysis in Hereditary Spastic Paraplegia With Thin Corpus Callosum in Spastic Gait Gene 11 (SPG11)

“…4 This finding is in accordance with ours. This locus is associated with the Andermann syndrome, an AR disease characterized by partial or complete agenesis of the CC, sensorimotor neuropathy, and mental retardation.…”

“…Analysis of linkage to chromosome 15q13-15 was performed as previously described 4,5 by using the following markers: D15S994, D15S659, D15S971, and D15S118. The SLC12A6 gene, located on chromosome 15q14, was screened for mutations by means of polymerase chain reaction and subsequent sequencing.…”

Screening of ARHSP-TCC patients expands the spectrum ofSPG11mutations and includes a large scale gene deletion

“…Since the initial reports linking Mediterranean and Asian ARHSP-TCC families to the SPG11 locus on chromosome 15q (Martinez-Murillo et al 1999;Shibasaki et al 2000), several groups, including our teams, proved that this phenotype has a worldwide distribution (Casali et al 2004;Lossos et al 2006;Olmez et al 2006;França et al 2007;Stevanin et al 2007Stevanin et al , 2008a and that it is particularly prevalent in the Mediterranean basin (Casali et al 2004;Stevanin et al 2006). More recently, we showed that ARHSP-TCC at this locus is associated with mutations in SPG11/KIAA1840 (MIM# 610844), a gene with an open reading frame of 7,787 nucleotides that comprises 40 exons and which spans a genomic region of approximately 100 Kb .…”

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia

“…The ARHSP-TCC was first linked to the SPG11 locus on chromosome 15q13-q15 in 7 spastic paraplegia families from North America and Europe, whose members showed pure and complicated HSP 2 , other HSP-TCC families from different ethnicities were also linked to the SPG11 locus ( [2][3][4][5] ). Refinement of the SPG11 locus to a region of 6 cM, which contained at least 70 genes, was described in 20 Mediterranean SPG11 families 3 and in a recent study of 20 Turkish families the SPG11 locus was narrowed to 2.93cM 4 .…”