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Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.

Neurology - 25 Nov 2014

Morino Hiroyuki, Pierce Sarah B, Matsuda Yukiko, Walsh Tom, Ohsawa Ryosuke, Newby Marta, Hiraki-Kamon Keiko, Kuramochi Masahito, Lee Ming K, Klevit Rachel E, Martin Alan, Maruyama Hirofumi, King Mary-Claire, Kawakami Hideshi

Abstract excerpt

OBJECTIVE: To identify the genetic cause in 2 families of progressive ataxia, axonal neuropathy, hyporeflexia, and abnormal eye movements, accompanied by progressive hearing loss and ovarian dysgenesis, with a clinical diagnosis of Perrault syndrome. METHODS: Whole-exome sequencing was performed to identify causative mutations in the 2 affected sisters in each family. Family 1 is of Japanese ancestry, and family...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25355836
DOI: 10.1212/WNL.0000000000001036
PMCID: PMC4248451

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Source receipt: pubmed, retrieved 6 Sept 2026.

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