Article

Challenges of the Polyglutamine Diseases: From Dysfunctional Neuronal Circuitries to Neuron-Specific CAG Repeat Instability

2025-08-25

Abstract excerpt

Several genetic diseases affecting the human nervous system are incurable and insufficiently understood. Among them, nine rare diseases form the polyglutamine (polyQ) family: Huntington's disease (HD), spinocerebellar ataxia types 1, 2, 3, 6, 7, and 17, dentatorubral pallidoluysian atrophy, and spinal and bulbar muscular atrophy. In most patients, these diseases progress over decades to cause severe movement...

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Literature Corpus work: 098cfcb0-4df7-5d72-bd71-9ddd848a8178
DOI: 10.20944/preprints202508.1762.v1

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