- Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present
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Jessica Qiu, Kishore Raj Kumar, Eloise Watson, Kate Ahmad, Carolyn M. Sue, Michael W. Hayes
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J Mov Disord. 2021;14(2):157-160. Published online May 26, 2021
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DOI: https://doi.org/10.14802/jmd.20159
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 Abstract
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- 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.
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Citations
Citations to this article as recorded by  - Presentation, Treatment, and Outcome of a First Stroke-like Episode in a Carrier of the Compound Heterozygous Variants c.695G_A and c.2209G_C in POLG: A Case Report
Dominik Zieglgänsberger, Josef Finsterer
Cureus.2025;[Epub] CrossRef - 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
- Health-Related Quality of Life for Parkinson’s Disease Patients and Their Caregivers
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Michal Lubomski, Ryan L. Davis, Carolyn M. Sue
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J Mov Disord. 2021;14(1):42-52. Published online January 12, 2021
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DOI: https://doi.org/10.14802/jmd.20079
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- Objective
Motor and non-motor symptoms (NMS) negatively impact the health-related quality of life (HRQoL) for individuals with Parkinson’s disease (PD), as well as their caregivers. NMS can emerge decades prior to the manifestation of motor symptoms but often go unrecognized and therefore untreated. To guide clinical management, we surveyed differences and identified factors that influence HRQoL in a cohort of PD patients and family caregivers.
Methods
A total of 103 PD patients were compared with 81 caregivers. Outcome measures collected from validated questionnaires included generic and disease-specific HRQoL assessments, depression frequency and severity, constipation severity, upper and lower gastrointestinal symptoms, physical activity and motor symptom severity.
Results
PD patients reported significantly decreased physical and mental HRQoL compared to their caregivers (both p < 0.001). Unemployment, the need for social support services, rehabilitation use, REM sleep behavior disorder, impulse control disorders and features suggestive of increasing disease severity hallmarked by increasing PD duration, higher MDS UPDRS-III (Movement Disorder Society–Unified Parkinson’s Disease Rating Scale–Part III) scores, higher daily levodopa equivalence dose and motor fluctuations were consistent with a lower HRQoL in our PD cohort. Furthermore, decreased physical activity, chronic pain, depression, constipation and upper gastrointestinal dysfunction (particularly indigestion, excess fullness and bloating) suggested vulnerability to reduced HRQoL. Overall, PD patients perceived their health to decline by 12% more than their caregivers did over a 1-year period.
Conclusion
PD patients reported decreased HRQoL, with both motor symptoms and NMS negatively impacting HRQoL. Our findings support the routine clinical screening of HRQoL in PD patients to identify and address modifiable factors.
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Citations
Citations to this article as recorded by - Effects of non-invasive brain stimulation over the supplementary motor area on motor function in Parkinson's disease: A systematic review and meta-analysis
Yawen Chen, Hanhong Jiang, Yixin Wei, Saiqing Ye, Jiaxin Jiang, Margaret K.Y. Mak, Marco Y.C. Pang, Qiang Gao, Meizhen Huang
Brain Stimulation.2025; 18(1): 1. CrossRef - Exploring the stigma experienced by people affected by Parkinson’s disease: a systematic review
Sophie Crooks, Gary Mitchell, Lisa Wynne, Gillian Carter
BMC Public Health.2025;[Epub] CrossRef - Diagnosis and treatment of autonomic failure, pain and sleep disturbances in Parkinson’s disease: guideline “Parkinson’s disease” of the German Society of Neurology
Alessandra Fanciulli, Friederike Sixel-Döring, Carsten Buhmann, Florian Krismer, Wiebke Hermann, Christian Winkler, Dirk Woitalla, Wolfgang H. Jost, Mathias Bähr, Jos Becktepe, Daniela Berg, Kathrin Brockmann, Andrés Ceballos-Baumann, Joseph Claßen, Corne
Journal of Neurology.2025;[Epub] CrossRef - Risk factors and intervention of caregiver burden in Parkinson’s disease: a systematic review and meta-analysis
Yan Zhao, Wenxiang Wu, Jianjun Wu, Bin Shen, Yanpei Cao, Yafang Xu
Quality of Life Research.2024; 33(7): 1753. CrossRef - Health-related quality of life in Parkinson’s disease: systematic review and meta-analysis of EuroQol (EQ-5D) utility scores
Raghu Bhanupriya, Madhumitha Haridoss, Goda Suchitra Lakshmi, Bhavani Shankara Bagepally
Quality of Life Research.2024; 33(7): 1781. CrossRef - Factors associated with self-rated health in people with late-stage parkinson’s and cognitive impairment
Jennifer S. Pigott, Megan Armstrong, Nathan Davies, Daniel Davis, Bastiaan R. Bloem, Stefan Lorenzl, Wassilios G. Meissner, Per Odin, Joaquim J. Ferreira, Richard Dodel, Anette Schrag
Quality of Life Research.2024; 33(9): 2439. CrossRef - Understanding what aspects of Parkinson’s disease matter most to patients and families
Jennifer R. Mammen, Mirinda Tyo, Joyce Cadorette, Jamie L. Adams, Yuge Xiao, Diane Stephenson, Claire Bale
Scientific Reports.2024;[Epub] CrossRef - Validating the Parkinson’s Disease Questionnaire (PDQ-39) in the Arab context: a pilot study among Tunisian patients
Chiraz Azaiez, Nasr Chalghaf, Imane Ghalmi, Ghada Boussayala, Mohamed Houcine Ibrahim Alajjouri, Nabil Muttlak El-Sadoon, Ali Ibrahim Abdul Wahid Al-Saadi, Mazin Inhaier Lami, Amel ben Chida Jammoussi, Choukri ben Ayed, Ismail Dergaa, Fairouz Azaiez
Cogent Psychology.2024;[Epub] CrossRef - The impact and value of the Parkinson’s nurse specialist to people with Parkinson’s and their care partners: a grounded theory qualitative study
Kathryn Mcewan, Amanda Clarke, Sonia Dalkin, Annette Hand
BMC Nursing.2024;[Epub] CrossRef - A single-blind, randomised control trial on the effectiveness of a structured multi component training module for family caregiver of persons with Parkinson’s disease: A study protocol
Nur Izyan Mohd Amin, Nor Azlin Mohd Nordin, Aniza Ismail, Sharmila Gopala Krishna Pillai, Hanif Farhan Mohd Rasdi, Antony Bayer
PLOS ONE.2024; 19(11): e0309648. CrossRef - Impact of advanced Parkinson’s disease on caregivers: an international real-world study
Pablo Martinez-Martin, Matej Skorvanek, Tove Henriksen, Susanna Lindvall, Josefa Domingos, Ali Alobaidi, Prasanna L. Kandukuri, Vivek S. Chaudhari, Apeksha B. Patel, Juan Carlos Parra, James Pike, Angelo Antonini
Journal of Neurology.2023; 270(4): 2162. CrossRef - Perspectives of people with Parkinson's disease and family carers about disease management in community settings: A cross‐country qualitative study
M. Victoria Navarta‐Sánchez, Ana Palmar‐Santos, Azucena Pedraz‐Marcos, Claire Reidy, Dia Soilemezi, Anita Haahr, Dorthe Sørensen, Helle Rønn Smidt, Line Kildal Bragstad, Ellen Gabrielsen Hjelle, Silje Bjørnsen Haavaag, Mari Carmen Portillo
Journal of Clinical Nursing.2023; 32(15-16): 5201. CrossRef - Barriers to home exercise for patients with Parkinson’s disease: a qualitative study
Qiaohong Wang, Yiping Chen, Linbo Li, Chao Li, Li Li, Huili Cao, Hui Yang
BMJ Open.2023; 13(2): e061932. CrossRef - An update on pathogenesis and clinical scenario for Parkinson’s disease: diagnosis and treatment
Hussaini Adam, Subash C. B. Gopinath, M. K. Md Arshad, Tijjani Adam, N. A. Parmin, Irzaman Husein, Uda Hashim
3 Biotech.2023;[Epub] CrossRef - Gastrointestinal Dysfunction in Parkinson’s Disease: Neuro-Gastroenterology Perspectives on a Multifaceted Problem
Ai Huey Tan, Kee Huat Chuah, Yuan Ye Beh, Jie Ping Schee, Sanjiv Mahadeva, Shen-Yang Lim
Journal of Movement Disorders.2023; 16(2): 138. CrossRef - Abdominal pain in Parkinson’s disease
A.A. Pilipovich, O.V. Vorobyova, S.A. Makarov
Russian Journal of Pain.2023; 21(2): 12. CrossRef - The multifaceted impact of structured training program on persons with Parkinson disease and their adult caregiver: A protocol for a systematic review
Sharmila Gopala Krishna Pillai, Nor Azlin Mohd Nordin, Norlinah Mohamed Ibrahim
Medicine.2023; 102(28): e33966. CrossRef - Detecting Minor Symptoms of Parkinson’s Disease in the Wild Using Bi-LSTM with Attention Mechanism
Vasileios Skaramagkas, Iro Boura, Cleanthi Spanaki, Emilia Michou, Georgios Karamanis, Zinovia Kefalopoulou, Manolis Tsiknakis
Sensors.2023; 23(18): 7850. CrossRef - Lower gastrointestinal dysfunction in patients with Parkinson’s disease
A.A. Pilipovich, O.V. Vorob’eva, S.A. Makarov, A.V. Kuchuk
S.S. Korsakov Journal of Neurology and Psychiatry.2023; 123(12): 42. CrossRef - The impact of device-assisted therapies on the gut microbiome in Parkinson’s disease
Michal Lubomski, Xiangnan Xu, Andrew J. Holmes, Jean Y. H. Yang, Carolyn M. Sue, Ryan L. Davis
Journal of Neurology.2022; 269(2): 780. CrossRef - Predictive Model of Quality of Life in Patients with Parkinson’s Disease
Eduardo Candel-Parra, María Pilar Córcoles-Jiménez, Victoria Delicado-Useros, Marta Carolina Ruiz-Grao, Antonio Hernández-Martínez, Milagros Molina-Alarcón
International Journal of Environmental Research and Public Health.2022; 19(2): 672. CrossRef - Die neue Parkinson-Schmerzklassifikation (PSK)
V. Mylius, S. Perez Lloret, C. S. Brook, M. T. Krüger, S. Hägele-Link, R. Gonzenbach, J. Kassubek, S. Bohlhalter, J. P. Lefaucheur, L. Timmermann, G. Kägi, F. Brugger, D. Ciampi de Andrade, J. C. Möller
Der Nervenarzt.2022; 93(10): 1019. CrossRef - Quantification Analysis of Sleep Based on Smartwatch Sensors for Parkinson’s Disease
Yi-Feng Ko, Pei-Hsin Kuo, Ching-Fu Wang, Yu-Jen Chen, Pei-Chi Chuang, Shih-Zhang Li, Bo-Wei Chen, Fu-Chi Yang, Yu-Chun Lo, Yi Yang, Shuan-Chu Vina Ro, Fu-Shan Jaw, Sheng-Huang Lin, You-Yin Chen
Biosensors.2022; 12(2): 74. CrossRef - Gastrointestinal Dysfunction Impact on Life Quality in a Cohort of Russian Patients with Parkinson’s Disease I-III H&Y Stage
A. A. Pilipovich, O. V. Vorob’eva, S. A. Makarov, N. N. Shindryaeva, Yu D. Vorob’eva, Seyed-Mohammad Fereshtehnejad
Parkinson's Disease.2022; 2022: 1. CrossRef - Nutritional Intake and Gut Microbiome Composition Predict Parkinson’s Disease
Michal Lubomski, Xiangnan Xu, Andrew J. Holmes, Samuel Muller, Jean Y. H. Yang, Ryan L. Davis, Carolyn M. Sue
Frontiers in Aging Neuroscience.2022;[Epub] CrossRef - The Gut Microbiome in Parkinson’s Disease: A Longitudinal Study of the Impacts on Disease Progression and the Use of Device-Assisted Therapies
Michal Lubomski, Xiangnan Xu, Andrew J. Holmes, Samuel Muller, Jean Y. H. Yang, Ryan L. Davis, Carolyn M. Sue
Frontiers in Aging Neuroscience.2022;[Epub] CrossRef - Characteristics and quality of life of substance users and their caregivers
Jadranka M. Maksimovic, Olivera B. Sbutega, Aleksandar D. Pavlovic, Hristina D. Vlajinac, Ivana I. Kavecan, Isidora S. Vujcic, Sandra B. Grujicic Sipetic
Medicine.2022; 101(31): e29699. CrossRef - Defining the unknowns for cell therapies in Parkinson's disease
Emma L. Lane, Mariah J. Lelos
Disease Models & Mechanisms.2022;[Epub] CrossRef - Increased Added Sugar Consumption Is Common in Parkinson's Disease
Natalie C. Palavra, Michal Lubomski, Victoria M. Flood, Ryan L. Davis, Carolyn M. Sue
Frontiers in Nutrition.2021;[Epub] CrossRef - Relationship Satisfaction in People with Parkinson’s Disease and Their Caregivers: A Cross-Sectional Observational Study
Johanne Heine, Hannah von Eichel, Selma Staege, Günter U. Höglinger, Florian Wegner, Martin Klietz
Brain Sciences.2021; 11(6): 822. CrossRef - Diagnosis and Management of Pain in Parkinson's Disease: A New Approach
Veit Mylius, Jens Carsten Möller, Stephan Bohlhalter, Daniel Ciampi de Andrade, Santiago Perez Lloret
Drugs & Aging.2021; 38(7): 559. CrossRef - Cognitive Influences in Parkinson's Disease Patients and Their Caregivers: Perspectives From an Australian Cohort
Michal Lubomski, Ryan L. Davis, Carolyn M. Sue
Frontiers in Neurology.2021;[Epub] CrossRef
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