DISEASE: Childhood-onset neurodegeneration with ataxia, tremor, optic atrophy, and cognitive decline
Entry
H02739 Disease
Name
Childhood-onset neurodegeneration with ataxia, tremor, optic atrophy, and cognitive decline
Description
Childhood-onset neurodegeneration with ataxia, tremor, optic atrophy, and cognitive decline (CONATOC) is a neurodegenerative disease caused by mutations in the SLC44A1 gene encoding choline transporter-like protein 1 (CTL1). CTL1 is a highly conserved Na+-independent, intermediate-affinity transporter of choline.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Other disorders of the nervous system
8E4Y Other specified disorders of the nervous system
H02739 Childhood-onset neurodegeneration with ataxia, tremor, optic atrophy, and cognitive decline
Fagerberg CR, Taylor A, Distelmaier F, Schroder HD, Kibaek M, Wieczorek D, Tarnopolsky M, Brady L, Larsen MJ, Jamra RA, Seibt A, Hejbol EK, Gade E, Markovic L, Klee D, Nagy P, Rouse N, Agarwal P, Dolinsky VW, Bakovic M
Title
Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration.
