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Article

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.

European journal of human genetics : EJHG - 1 Oct 2016

van de Warrenburg Bart P, Schouten Meyke I, de Bot Susanne T, Vermeer Sascha, Meijer Rowdy, Pennings Maartje, Gilissen Christian, Willemsen Michèl Aap, Scheffer Hans, Kamsteeg Erik-Jan

Abstract excerpt

Cerebellar ataxia (CA) and hereditary spastic paraplegia (HSP) are two of the most prevalent motor disorders with extensive locus and allelic heterogeneity. We implemented clinical exome sequencing, followed by filtering data for a 'movement disorders' gene panel, as a generic test to increase variant detection in 76 patients with these disorders. Segregation analysis or phenotypic re-evaluation was utilized to...

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PMID: 27165006
DOI: 10.1038/ejhg.2016.42
PMCID: PMC5027687

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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