Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle - PubMed (original) (raw)
Case Reports
. 2007 Jul;64(7):998-1000.
doi: 10.1001/archneur.64.7.998.
Affiliations
- PMID: 17620490
- DOI: 10.1001/archneur.64.7.998
Case Reports
Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle
Robert H Baloh et al. Arch Neurol. 2007 Jul.
Abstract
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.
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