Agenesis of the Corpus Callosum with Peripheral Neuropathy (ACCPN)
The corpus callosum is the largest connective structure found in the brain and is formed by millions of neuronal axons that transfer information between the two cerebral hemispheres.
Peripheral neuropathy with agenesis of the corpus callosum (ACCPN), also known as Andermann syndrome, is a progressive and severe sensory motor pathology associated with mental retardation and physical impairment. It is a very rare syndrome with an autosomal recessive inheritance pattern that is particularly prevalent in the population originating from Quebec, Canada.
The gene related to ACCPN is SLC12A6 which is involved in neuronal migration during development of the corpus callosum in the fetal stage.
Symptoms
ACCPN is characterized by severe and progressive sensorimotor neuropathy with lack of reflexes. Sensory and motor disturbances usually appear during early age, patients present hypotonia (low muscle tone) from the first year of life and a significant delay in the time when they start walking (almost at the age of 4 years).
Patients with ACCPN usually stop walking at approximately 14 years of age. As the disease progresses, there is a risk of contractures and muscle atrophy. Scoliosis and intellectual disability are also common.
Disease management
Patient follow-up by a multidisciplinary team consisting of pediatricians, neurologists, psychiatrists, orthopedists and physiotherapists.
Genes analyzed
Bibliography
Bogdanova-Mihaylova P, McNamara P, Burton-Jones S, et al. Expanding the phenotype of SLC12A6-associated sensorimotor neuropathy. BMJ Case Rep. 2021 Oct 27;14(10):e244641.
Gauvreau C, Brisson JD, Dupré N. Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum. 2006 Feb 2 [updated 2020 Sep 17]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.
Howard HC, Mount DB, Rochefort D,et al. The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat Genet. 2002 Nov;32(3):384-92.
