Premium
Hereditary motor and sensory neuropathy with agenesis of the corpus callosum
Author(s) -
Dupré Nicolas,
Howard Heidi C.,
Mathieu Jean,
Karpati George,
Vanasse Michel,
Bouchard JeanPierre,
Carpenter Stirling,
Rouleau Guy A.
Publication year - 2003
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.77777
Subject(s) - agenesis of the corpus callosum , hereditary motor and sensory neuropathy , corpus callosum , hypotonia , amyotrophy , polyneuropathy , agenesis , medicine , founder effect , pediatrics , neuroscience , disease , psychology , pathology , genetics , anatomy , biology , atrophy , gene , allele , haplotype
Abstract Hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum (OMIM 218000) is an autosomal recessive disease of early onset characterized by a delay in developmental milestones, a severe sensory‐motor polyneuropathy with areflexia, a variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment. Although this disorder has rarely been reported worldwide, it has a high prevalence in the Saguenay‐Lac‐St‐Jean region of the province of Quebec (Canada) predominantly because of a founder effect. The gene defect responsible for this disorder recently has been identified, and it is a protein‐truncating mutation in the SLC12A6 gene, which codes for a cotransporter protein known as KCC3. Herein, we provide the first extensive review of this disorder, covering epidemiological, clinical, and molecular genetic studies. Ann Neurol 2002;54:9–18