Journal of Movement Disorders

Carolyn M. Sue

2 Articles

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

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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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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: Michal Lubomski, Ryan L. Davis, Carolyn M. Sue; J Mov Disord. 2021;14(1):42-52. Published online January 12, 2021; DOI: https://doi.org/10.14802/jmd.20079

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16 Citations

Abstract PDF

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.

Citations

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Impact of advanced Parkinson’s disease on caregivers: an international real-world study
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Journal of Neurology.2023;[Epub] CrossRef
Perspectives of people with Parkinson's disease and family carers about disease management in community settings: A cross‐country qualitative study
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Journal of Clinical Nursing.2023;[Epub] 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
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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