Speech and swallowing abnormalities in adults with POLG associated ataxia (POLG-A)

AP Vogel; N Rommel; A Oettinger; M Horger; P Krumm; EM Kraus; L Schöls; M Synofzik

Journal article

Speech and swallowing abnormalities in adults with POLG associated ataxia (POLG-A)

AP Vogel, N Rommel, A Oettinger, M Horger, P Krumm, EM Kraus, L Schöls, M Synofzik

Mitochondrion | ELSEVIER SCI LTD | Published : 2017

DOI: 10.1016/j.mito.2017.06.002

Abstract

Background Mutations in the nuclear-encoded mitochondrial DNA polymerase gamma (POLG) can result in a wide spectrum of neurological deficits. A common presentation is progressive ataxia (POLG-A) which includes impaired speech and swallowing. The nature, severity and impact of these deficits in POLG-A is not known. A comprehensive quantitative and qualitative characterization of dysarthria and dysphagia in this recurrent ataxia disorder will assist in diagnostics, provide insights into the underlying pathology, and establish the foundation for future therapy trials. Methods 14 consecutive patients with POLG (9 females, mean age = 50.1 y, SD = 11.2) and 34 healthy controls were enrolled. Compr..

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University of Melbourne Researchers

Adam Vogel Author

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Grants

Awarded by Alexander von Humboldt-Stiftung

Funding Acknowledgements

A/Prof Vogel receives funding from the National Health and Medical Research Council, Australia (Career Development Fellowship ID 1082910), is funded by Australian Research Council grants (LP130100026, DP130101900), receives funding from the Alexander von Humboldt Foundation and receives institutional support from The University of Melbourne.