Brain, Vol 121, Issue 9 1735-1747, Copyright © 1998 by Oxford University Press
M Urtasun, A Saenz, C Roudaut, JJ Poza, JA Urtizberea, AM Cobo, I Richard, F Garcia Bragado, F Leturcq, JC Kaplan, JF Marti Masso, JS Beckmann and A Lopez de Munain
The concept of limb-girdle muscular dystrophy (LGMD) is changing rapidly
due to the advances in molecular genetics. Recently, seven different gene
loci have been described, demonstrating that limb-girdle muscular dystrophy
is a heterogeneous syndrome, which includes different diseases with a
similar phenotype. In isolated populations which have little genetic
exchange with neighbouring populations, an accumulation of cases may be
found. We carried out an epidemiological study in Guipuzcoa, a small
mountainous Basque province in northern Spain, and found the highest
prevalence rate of LGMD described so far: 69 per million. Genetic studies
demonstrated that 38 cases corresponded to the LGMD2A type, due to
calpain-3 gene mutations. Only one patient with alpha-sarcoglycanopathy was
found, and in 12 patients the genetic defect was not identified. Moreover,
the particular calpain-3 mutation predominant in Basque chromosomes (exon
22, 2362AG-->TCATCT), has only been rarely found in the rest of the
world. This observation strongly suggests a founder effect in the
indigenous population of Guipuzcoa. The clinical characteristics of the
patients with calpain-3 gene mutations were quite homogeneous and different
from the other groups (sarcoglycanopathy and unknown gene defect), allowing
for a precise clinical diagnostic. The disease onset was between the ages
of 8 and 15 years, in most cases in the pelvic girdle, and the patients
became wheelchair-bound between 11 and 28 years after onset. No
pseudohypertrophy of calves or contractures were observed. No clear
correlations were found between the nature and site of the mutation and the
resulting phenotype.
ARTICLES
Limb-girdle muscular dystrophy in Guipuzcoa (Basque Country, Spain)
Department of Neurology, Hospital Ntra. Sra. Aranzazu, San Sebastian, Basque Country, Spain. murtasuno@meditex.es
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