Corpus callosum agenesis neuronopathy

Also Known As:

ACCPN; Agenesis of Corpus Callosum with Neuronopathy; Agenesis of Corpus Callosum with Peripheral Neuropathy; Agenesis of Corpus Callosum with Polyneuropathy; Agenesis of the corpus callosum with peripheral neuropathy; Andermann syndrome; Charlevoix disease; Corpus Callosum, Agenesis of, with Neuronopathy; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum

Networked: 14 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Hereditary Sensory and Motor Neuropathy (Dejerine Sottas Disease)
2.	Neurodegenerative Diseases (Neurodegenerative Disease)
3.	Corpus callosum agenesis neuronopathy
4.	Psychotic Disorders (Schizoaffective Disorder)
5.	Peripheral Nervous System Diseases (PNS Diseases)

Experts

1.	Rouleau, Guy A: 6 articles (10/2017 - 11/2002)
2.	Delpire, Eric: 4 articles (10/2017 - 11/2002)
3.	Laganière, Janet: 4 articles (01/2013 - 09/2008)
4.	Salin-Cantegrel, Adèle: 4 articles (01/2013 - 09/2008)
5.	Shekarabi, Masoud: 4 articles (01/2013 - 09/2008)
6.	Dion, Patrick A: 3 articles (10/2017 - 08/2011)
7.	Lapointe, Jean-Yves: 3 articles (01/2013 - 09/2008)
8.	Rochefort, Daniel: 3 articles (08/2011 - 11/2002)
9.	Bouchard, Jean-Pierre: 2 articles (10/2017 - 11/2002)
10.	Hince, Pascale: 2 articles (10/2017 - 09/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Corpus callosum agenesis neuronopathy:

1.	Potassium Chloride FDA LinkGeneric 02/16/2011 - "Potassium/Chloride cotransporter 3 (KCC3) mutations are responsible for hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), which is a severe sensory and motor neuropathy. " 01/01/2013 - "Loss-of-function of the potassium-chloride cotransporter 3 (KCC3) causes hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), a severe neurodegenerative disease associated with defective midline crossing of commissural axons in the brain. " 10/01/2017 - "Loss-of-function mutations in the potassium-chloride cotransporter KCC3 lead to Andermann syndrome, a severe sensorimotor neuropathy characterized by areflexia, amyotrophy and locomotor abnormalities. " 08/12/2011 - "Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum." 09/01/2008 - "The potassium-chloride co-transporter 3 (KCC3) is mutated in hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC); however, the molecular mechanisms of HMSN/ACC pathogenesis and the exact role of KCC3 in the development of the nervous system remain poorly understood. "
2.	K Cl- CotransportersIBA 11/01/2002 - "The gene SLC12A6 (solute carrier family 12, member 6), which encodes the K+-Cl- transporter KCC3 and maps within the ACCPN candidate region, was screened for mutations in individuals with ACCPN. " 10/29/2016 - "The autosomal recessive Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum (HMSN/ACC) is associated with the dysfunction of the K(+)-Cl(-) cotransporter type 3 (KCC3), which is an electroneutral cotransporter. " 03/03/2006 - "The neurodegenerative disorder Andermann syndrome is caused by mutations of the K-Cl cotransporter KCC3. " 10/01/2019 - "In humans, SLC12A6 variants cause "agenesis of the corpus callosum with peripheral neuropathy" (ACCPN, alias Andermann syndrome), owing to a dysfunction of this K+-Cl- cotransporter. " 10/01/2017 - "Loss-of-function mutations in the potassium-chloride cotransporter KCC3 lead to Andermann syndrome, a severe sensorimotor neuropathy characterized by areflexia, amyotrophy and locomotor abnormalities. "
3.	SymportersIBA 08/12/2011 - "Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum." 09/01/2008 - "The potassium-chloride co-transporter 3 (KCC3) is mutated in hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC); however, the molecular mechanisms of HMSN/ACC pathogenesis and the exact role of KCC3 in the development of the nervous system remain poorly understood. " 12/01/2005 - "Recessive mutations of the potassium chloride co-transporter 3 gene ( SLC12A6 , KCC3 ) cause severe peripheral neuropathy frequently associated with agenesis of the corpus callosum and psychoses (ACCPN). " 08/12/2011 - "Missense and protein-truncating mutations of the human potassium-chloride co-transporter 3 gene (KCC3) cause hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), which is a severe neurodegenerative disease characterized by axonal dysfunction and neurodevelopmental defects. "
4.	Genetic Markers (Genetic Marker)IBA 01/01/2003 - "The molecular genetic analysis using microsatellite DNA markers covering the agenesis of the corpus callosum with peripheral neuropathy locus on chromosome 15q13-q15 showed that the patient is homozygous for the whole region. " 01/01/1996 - "A genomewide search using 120 microsatellite DNA markers in 14 French Canadian families allowed the mapping of the ACCPN gene to a 5-cM region on chromosome 15q13-q15 that is flanked by markers D15S1040 and D15S118. "
5.	Triglycerides (Triacylglycerol)IBA 02/01/1978 - "In Charlevoix disease, a similar abnormality was seen except for the excess of triglycerides. "
6.	Proteins (Proteins, Gene)FDA Link 08/12/2011 - "Missense and protein-truncating mutations of the human potassium-chloride co-transporter 3 gene (KCC3) cause hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), which is a severe neurodegenerative disease characterized by axonal dysfunction and neurodevelopmental defects. "
7.	ParvalbuminsIBA 11/01/2014 - "Together, these results establish that the parvalbumin-positive neuronal population is an important player in the pathogenic development of ACCPN. "