Publications by authors named "Taieb Chkili"
Background: The gene encoding the ganglioside-induced-differentiation-associated protein 1 (GDAP1) has been associated with both axonal and demyelinating neuropathy. Up to date, 25 mutations in the GDAP1 gene have been reported in patients from different origins.
Methods: Three Moroccan families with early onset ARCMT1 and autosomal recessive inheritance were genotyped to test linkage to 8q21.
Autosomal recessive ulcero-mutilating neuropathy with spastic paraplegia is a very rare disease since only few cases were described up to date. We report in this study a consanguineous Moroccan family with four affected males with this syndrome. The disease onset was in early infancy, with spastic paraplegia and sensory loss leading to mutilating acropathy.
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- Unverricht-Lundborg disease (ULD) is a progressive myoclonus epilepsy primarily affecting populations in Finland and North Africa, linked to a repeat expansion in the CSTB gene.
- A study analyzing 95 ULD chromosomes identified a founder effect in North African patients who predominantly shared a specific haplotype (A1), while West European Caucasians showed greater genetic diversity.
- The research suggests that a common ancestor for these haplotypes may have existed around 2,500 years ago, indicating there are only a few founder mutations responsible for ULD.