KMDS
E-submission
Search
- Page Path
- HOME > Search
Case Report
- Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present
- Jessica Qiu, Kishore Raj Kumar, Eloise Watson, Kate Ahmad, Carolyn M. Sue, Michael W. Hayes
- J Mov Disord. 2021;14(2):157-160. Published online May 26, 2021
- DOI: https://doi.org/10.14802/jmd.20159
- 6,919 View
- 165 Download
- 7 Web of Science
- 6 Crossref
-
Abstract
PDF
Supplementary Material - The POLG gene encodes mitochondrial DNA polymerase, and mutations in this gene cause a spectrum of disorders related to mitochondrial DNA depletion or deletion. Dystonia has only rarely been reported as an early and prominent manifestation of POLG mutations. We report a case of a 30-year-old male presenting with lower limb dystonia with peripheral neuropathy and demonstrate that the dystonia was levodopa responsive (with video findings). Whole-genome sequencing revealed biallelic variants in the POLG gene: a known pathogenic variant [NM_001126131.2:c.2209G>C (p.Gly737Arg)] and a novel likely pathogenic variant [NM_001126131.2:c.3305A>C (p.Gln1102Pro)]. A genetic diagnosis was made before the appearance of more readily recognizable features of mitochondrial disease, allowing us to avoid invasive tissue biopsies or potentially deleterious treatments, such as sodium valproate. A POLG-related disorder should be suspected in cases of dystonia with peripheral neuropathy, and this diagnosis may have implications for further investigations and management.
-
Citations
Citations to this article as recorded by
- Genome sequencing reanalysis increases the diagnostic yield in dystonia
Avi Fellner, Gurusidheshwar M. Wali, Neil Mahant, Bianca R. Grosz, Melina Ellis, Ramesh K. Narayanan, Karl Ng, Ryan L. Davis, Michel C. Tchan, Katya Kotschet, Dennis Yeow, Laura I. Rudaks, Sue-Faye Siow, Gautam Wali, Con Yiannikas, Matthew Hobbs, Joseph C
Parkinsonism & Related Disorders.2024; 124: 107010. CrossRef - Possible EIF2AK2‐Associated Stress‐Related Neurological Decompensation with Combined Dystonia and Striatal Lesions
Sophie E. Waller, Hugo Morales‐Briceño, Laura Williams, Shekeeb S. Mohammad, Avi Fellner, Kishore R. Kumar, Michel Tchan, Victor S.C. Fung
Movement Disorders Clinical Practice.2022; 9(2): 240. CrossRef - Movement disorders and neuropathies: overlaps and mimics in clinical practice
Francesco Gentile, Alessandro Bertini, Alberto Priori, Tommaso Bocci
Journal of Neurology.2022; 269(9): 4646. CrossRef - Transgenic Mice for the Translational Study of Neuropathic Pain and Dystonia
Damiana Scuteri, Kengo Hamamura, Chizuko Watanabe, Paolo Tonin, Giacinto Bagetta, Maria Tiziana Corasaniti
International Journal of Molecular Sciences.2022; 23(15): 8580. CrossRef - An overview of the pharmacotherapeutics for dystonia: advances over the past decade
O. Abu-hadid, J. Jimenez-Shahed
Expert Opinion on Pharmacotherapy.2022; 23(17): 1927. CrossRef - Exploitation of Thermal Sensitivity and Hyperalgesia in a Mouse Model of Dystonia
Damiana Scuteri, Laura Rombolà, Silvia Natoli, Antonio Pisani, Paola Bonsi, Kengo Hamamura, Giacinto Bagetta, Paolo Tonin, Maria Tiziana Corasaniti
Life.2021; 11(9): 985. CrossRef
- Genome sequencing reanalysis increases the diagnostic yield in dystonia
First
Prev
