olivopontocerebellar atrophy

Summary
Synonym
  • Dejerine-Thomas syndrome
  • Thomas' syndrome
  • WADIA-SWAMI SYNDROME
Definition
A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives.
Super Class
neurodegenerative disease
Disease Ontology
DOID:14784
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
54840 APTX aprataxin

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024