title: Hereditary motor and sensory neuropathy with agenesis of the corpus callosum.
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.
authors.affiliation: Centre for Research in Neurosciences and the Department of Neurology and Neurosurgery, McGill University, Montreal.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Dupré
authors.forename: Heidi C
authors.initials: HC
authors.lastname: Howard
authors.forename: Jean
authors.initials: J
authors.lastname: Mathieu
authors.forename: George
authors.initials: G
authors.lastname: Karpati
authors.forename: Michel
authors.initials: M
authors.lastname: Vanasse
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Bouchard
authors.forename: Stirling
authors.initials: S
authors.lastname: Carpenter
authors.forename: Guy A
authors.initials: GA
authors.lastname: Rouleau
mesh_terms: D000293:Adolescent; D000328:Adult; D061085:Agenesis of Corpus Callosum; D001284:Atrophy / Q000473:pathology; D020968:Brachial Plexus Neuritis / Q000453:epidemiology; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000453:epidemiology; D015897:Comorbidity; D004576:Electromyography; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D005838:Genotype; D015417:Hereditary Sensory and Motor Neuropathy / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008475:Median Nerve / Q000503:physiopathology; D009123:Muscle Hypotonia / Q000453:epidemiology; D009431:Neural Conduction / Q000502:physiology; D017354:Point Mutation / Q000235:genetics; D011792:Quebec / Q000453:epidemiology; D012021:Reflex, Abnormal / Q000502:physiology; D027981:Symporters / Q000235:genetics; D000096922:K Cl- Cotransporters
chemical_list: D027981:Symporters; C119650:SLC12A6 protein, human; D000096922:K Cl- Cotransporters