H01295 | |
H number | H01295 |
Name | Neurodegeneration due to cerebral folate transport deficiency |
Description | Neurodegeneration due to cerebral folate transport deficiency is an autosomal recessive disorder of brain specific folate deficiency, characterized by severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Folate-receptor alpha (FOLR1) is of central importance for folate transport across the blood brain barrier via the choroid plexus. It has been reported that mutations in FOLR1 cause this disease. Folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function. |
Category | Neurodegenerative disease |
Network | - |
Gene | FOLR1 [HSA:2348] [KO:K13649] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C63.1 ICD-10: G31.8 MeSH: C567791 OMIM: 613068 |
Reference | PMID:19732866 AUTHORS Steinfeld R, Grapp M, Kraetzner R, Dreha-Kulaczewski S, Helms G, Dechent P, Wevers R, Grosso S, Gartner J TITLE Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. JOURNAL Am J Hum Genet 85:354-63 (2009) DOI:10.1016/j.ajhg.2009.08.005 PMID:20018644 AUTHORS Cario H, Bode H, Debatin KM, Opladen T, Schwarz K TITLE Congenital null mutations of the FOLR1 gene: a progressive neurologic disease and its treatment. JOURNAL Neurology 73:2127-9 (2009) DOI:10.1212/WNL.0b013e3181c679df |