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De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity

14 Jun 2024

Abstract excerpt

Alpha-tubulin 4A encoding gene (TUBA4A) has been associated with familial amyotrophic lateral sclerosis and frontotemporal dementia, based on identification of likely pathogenic variants in patients from distinct amyotrophic lateral sclerosis and frontotemporal dementia cohorts. By screening a multicentric French cohort of 448 unrelated probands presenting with cerebellar ataxia, we identified ultra-rare TUBA4A...

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PMID: 38884572
DOI: 10.1093/brain/awae193

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