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Ataxia and polyneuropathy, adult-onset

MedGen UID:
374087
•Concept ID:
C1838916
•
Disease or Syndrome
Synonym: Ataxia and Polyneuropathy, Adult-Onset
 
Monarch Initiative: MONDO:0010781
OMIM®: 500010

Professional guidelines

PubMed

Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
Méreaux JL, Firanescu C, Coarelli G, Kvarnung M, Rodrigues R, Pegoraro E, Tazir M, Taithe F, Valter R, Huin V, Lidström K, Banneau G, Morais S, Parodi L, Coutelier M, Papin M, Svenningsson P, Azulay JP, Alonso I, Nilsson D, Brice A, Le Guern E, Press R, Vazza G, Loureiro JL, Goizet C, Durr A, Paucar M, Stevanin G
Neurogenetics 2021 Mar;22(1):71-79. Epub 2021 Jan 23 doi: 10.1007/s10048-020-00633-2. PMID: 33486633Free PMC Article

Recent clinical studies

Clinical prediction guides

Novel mutation in spacer region of POLG associated with ataxia neuropathy spectrum and gastroparesis.
Bostan A, Glibert G, Dachy B, Dan B
Auton Neurosci 2012 Sep 25;170(1-2):70-2. Epub 2012 Jul 16 doi: 10.1016/j.autneu.2012.06.002. PMID: 22805437

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