DISEASES

Disease-gene associations mined from literature

Human genes for olivopontocerebellar atrophy

Olivopontocerebellar atrophy [DOID:14784]

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.

Synonyms:  olivopontocerebellar atrophy,  DOID:14784,  olivopontocerebellar atrophies,  Dejerine-Thomas syndrome,  Thomas' syndrome ...

Linkouts:  OMIM #1 #2 #3 #4 #5 #6