Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle.

Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. Research Abstract Details 

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Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. Abstract Text:

Robert H Baloh,Ezequiel Salavaggione,Jeffrey Milbrandt,Alan Pestronk,

OBJECTIVE: To describe the clinical phenotype and genetic basis of a family with autosomal dominant progressive external ophthalmoplegia and parkinsonism from a Twinkle mutation. DESIGN: All coding exons of POLG1, Twinkle (aka C10ORF2, PEO1), and ANT1 (SLC25A4) were sequenced in the proband with targeted sequencing of the Twinkle gene in all additional subjects. SUBJECTS: Members of a 3-generation family followed up in a neuromuscular disease center for dominantly inherited progressive external ophthalmoplegia. RESULTS: We identified a heterozygous G1121A mutation (R374Q) in exon 1 of Twinkle that segregated with the disease phenotype in all affected family members. No pathogenic mutations were present in POLG1 or ANT1. CONCLUSION: This finding broadens the clinical spectrum of Twinkle gene mutations and further implicates loss of mitochondrial DNA integrity in the pathogenesis of Parkinson disease.

Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. Publishing Authors By Initials

RH Baloh,E Salavaggione,J Milbrandt,A Pestronk,

For similar genetic phenomena: phenotype research abstracts see: genetic phenomena: phenotype research

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Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Archives of neurology

VOLUME: 64

Page Numbers: 998-1000

Journal Abbreviation: Arch. Neurol.

ISSN: 0003-9942

DAY: 3

MONTH: Jul

YEAR: 2007

Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. Information

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LANGUAGE: eng

NlmUniqueID: 372436

Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. Keywords Mesh Terms:

KEYWORDS: Phenotype

MESH TERMS: physiopathology

Chemical & Substance for Abstract: Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. Information

Substance Name: PEO1 protein, human

Registry Number: EC 3.6.1.-

Grant and Affiliation Information for Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle.

AFFILIATION: Department of Neurology, Washington University School of Medicine, PO Box 8111, 660 S Euclid Ave, St Louis, MO 63110, USA. balohb@neuro.wustl.edu

Country: United States

AGENCY: United States NCRR

GRANT: 1K12RR023249-01

ACRONYM: RR

MEDLINETA: Arch Neurol

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