KEGG   DISEASE: Childhood-onset neurodegeneration with cerebellar atrophy
Entry
H02738                      Disease                                
Name
Childhood-onset neurodegeneration with cerebellar atrophy
Description
Childhood-onset neurodegeneration with cerebellar atrophy (CONDCA) is a lower motor neuron disorder due to biallelic loss-of-function mutations in AGTPBP1. Patients generally presented with muscular hypotonia, global developmental delays, and cerebellar atrophy on brain imaging from early infancy, followed by progressive worsening of neurological function. AGTPBP1 encodes cytosolic carboxypeptidase 1 (CCP1) involved in tubulin deglutamylation.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  8E7Y  Other specified diseases of the nervous system
   H02738  Childhood-onset neurodegeneration with cerebellar atrophy
Gene
(CONDCA) AGTPBP1 [HSA:23287] [KO:K23435]
Other DBs
ICD-11: 8E7Y
OMIM: 618276
Reference
PMID:30420557
  Authors
Shashi V, Magiera MM, Klein D, Zaki M, Schoch K, Rudnik-Schoneborn S, Norman A, Lopes Abath Neto O, Dusl M, Yuan X, Bartesaghi L, De Marco P, Alfares AA, Marom R, Arold ST, Guzman-Vega FJ, Pena LD, Smith EC, Steinlin M, Babiker MO, Mohassel P, Foley AR, Donkervoort S, Kaur R, Ghosh PS, Stanley V, Musaev D, Nava C, Mignot C, Keren B, Scala M, Tassano E, Picco P, Doneda P, Fiorillo C, Issa MY, Alassiri A, Alahmad A, Gerard A, Liu P, Yang Y, Ertl-Wagner B, Kranz PG, Wentzensen IM, Stucka R, Stong N, Allen AS, Goldstein DB, Schoser B, Rosler KM, Alfadhel M, Capra V, Chrast R, Strom TM, Kamsteeg EJ, Bonnemann CG, Gleeson JG, Martini R, Janke C, Senderek J
  Title
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
  Journal
EMBO J 37:embj.2018100540 (2018)
DOI:10.15252/embj.2018100540
Reference
PMID:31102495
  Authors
Karakaya M, Paketci C, Altmueller J, Thiele H, Hoelker I, Yis U, Wirth B
  Title
Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy.
  Journal
Am J Med Genet A 179:1580-1584 (2019)
DOI:10.1002/ajmg.a.61198
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