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Repository for the Human Disease Ontology.
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Potential review of classification(s) for autosomal recessive cerebellar ataxias #1366

Open allenbaron opened 3 months ago

allenbaron commented 3 months ago

Autosomal recessive cerebellar ataxias in DO are primarily organized according to OMIM phenotypic series. Recent attempts have been made to reclassify these diseases.

Please consider whether DO's classification of these diseases needs to be updated accordingly.

References

International group of experts

Beaudin M, Matilla-Dueñas A, Soong BW, Pedroso JL, Barsottini OG, Mitoma H, Tsuji S, Schmahmann JD, Manto M, Rouleau GA, Klein C, Dupre N. The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force. Cerebellum. 2019 Dec;18(6):1098-1125. doi: 10.1007/s12311-019-01052-2. PMID: 31267374; PMCID: PMC6867988.

May also be relevant

Manto M, Gandini J, Feil K, Strupp M. Cerebellar ataxias: an update. Curr Opin Neurol. 2020 Feb;33(1):150-160. doi: 10.1097/WCO.0000000000000774. PMID: 31789706.

Witek N, Hawkins J, Hall D. Genetic ataxias: update on classification and diagnostic approaches. Curr Neurol Neurosci Rep. 2021 Feb 26;21(3):13. doi: 10.1007/s11910-021-01092-4. PMID: 33638050.

allenbaron commented 3 months ago

Another reference to consider:

Raslan IR, Barsottini OG, Pedroso JL. A Proposed Clinical Classification and a Diagnostic Approach for Congenital Ataxias. Neurol Clin Pract. 2021 Jun;11(3):e328-e336. doi: 10.1212/CPJ.0000000000000966. PMID: 34484907; PMCID: PMC8382376.