Founder Effect in Patients with Unverricht‐Lundborg Disease on Reunion Island

Summary:  Purpose: Unverricht‐Lundborg disease (ULD) is the most frequent form of progressive myoclonus epilepsy. ULD is caused mostly by a homozygous expansion of a dodecamer repeat in the cystatin B gene (CSTB) promoter. We present here a clinical and molecular study of 14 ULD patients originating from Reunion Island, a French island in the Indian Ocean.

[1]  C. Buresi,et al.  Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations , 2002, Human Genetics.

[2]  A. Korczyn,et al.  Unverricht–Lundborg disease in a five-generation Arab family , 2001, Neurology.

[3]  A. Lehesjoki,et al.  Clinical features and genetics of progressive myoclonus epilepsy of the Unverricht-Lundborg type , 1998 .

[4]  A. Malafosse,et al.  [Unverricht-Lündborg disease: clinical and electrophysiologic study of 19 Maghreb families]. , 1998, Revue neurologique.

[5]  S. Antonarakis,et al.  A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset. , 1998, American journal of human genetics.

[6]  Alain Malafosse,et al.  Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy , 1997, Nature.

[7]  J. Rommens,et al.  Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1 , 1997, Nature Genetics.

[8]  Isabelle Richard,et al.  Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A , 1995, Cell.

[9]  D. Le Paslier,et al.  Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval. , 1994, American journal of human genetics.

[10]  F. Andermann,et al.  Progressive myoclonus epilepsies: specific causes and diagnosis. , 1986, The New England journal of medicine.

[11]  J. Feingold,et al.  Cluster of acute infantile spinal muscular atrophy (Werdnig‐Hoffmann disease) in a limited area of Reunion Island , 1984, Clinical genetics.