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Investigation of Nocturnal Hypokinesia and Health-Related Quality of Life in Parkinsonian Patients with the Korean Version of the Nocturnal Hypokinesia Questionnaire
Ji-Hyun Choi, Jee-Young Lee, Chaewon Shin, Dallah Yoo, Jin Hee Im, Kyung Ah Woo, Han-Joon Kim, Tae-Beom Ahn, Jong-Min Kim, Beomseok Jeon
J Mov Disord. 2021;14(3):221-225.   Published online May 26, 2021
DOI: https://doi.org/10.14802/jmd.20172
  • 4,174 View
  • 70 Download
  • 1 Web of Science
  • 1 Crossref
AbstractAbstract PDFSupplementary Material
Objective
To assess nocturnal hypokinesia using the Korean version of the Nocturnal Hypokinesia Questionnaire (NHQ-K) in Parkinson’s disease (PD) patients across disease stages.
Methods
We developed the NHQ-K and performed questionnaire-based interviews with 108 PD patients from three referral hospitals. Clinical associations of nocturnal hypokinesia and its impact on health-related quality of life (HRQoL) were also analyzed.
Results
The NHQ-K showed acceptable internal consistency (0.83) and interrater reliability (0.95). Nocturnal hypokinesia significantly affected HRQoL in PD patients at both the early and advanced stages (adjusted p < 0.001). Increased severity of nocturnal hypokinesia was associated with dyskinesias, off-period disability, apathy, and anxious mood in PD patients (adjusted p < 0.01) after controlling for disease severity and medication dose.
Conclusion
The NHQ-K is useful for screening nocturnal hypokinesia in PD patients. Given the high impact of nocturnal hypokinesia on HRQoL, comprehensive management of nocturnal disability is needed for PD patients.

Citations

Citations to this article as recorded by  
  • Technological evaluation of strategies to get out of bed by people with Parkinson's disease: Insights from multisite wearable sensors
    Jirada Sringean, Chusak Thanawattano, Roongroj Bhidayasiri
    Frontiers in Medical Technology.2022;[Epub]     CrossRef
Case Report
Young-Onset Parkinson’s Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7
Dallah Yoo, Ji-Hyun Choi, Jin-Hee Im, Man Jin Kim, Han-Joon Kim, Sung Sup Park, Beomseok Jeon
J Mov Disord. 2020;13(3):225-228.   Published online September 9, 2020
DOI: https://doi.org/10.14802/jmd.20026
  • 4,960 View
  • 115 Download
  • 3 Web of Science
  • 3 Crossref
AbstractAbstract PDF
F-box only protein 7 (FBXO7) is a rare monogenic cause of hereditary Parkinson’s disease (PD) with an autosomal recessive mode of inheritance and a broad spectrum of clinical manifestations. Here, we report a de novo PD patient with onset at the age of 28 with novel compound heterozygous variants in the FBXO7 gene (c.1162C>T, p.Gln388X; c.80G>A, p.Arg27His). The clinical features of the patient were problematic impulse control disorder behaviors and pyromania, and pyramidal signs were negative. We describe the novel pathogenic variants of the FBXO7 gene with detailed clinical pictures to report the expanding genotypes and phenotypes of FBXO7-associated parkinsonism.

Citations

Citations to this article as recorded by  
  • Study of an FBXO7 patient mutation reveals Fbxo7 and PI31 co‐regulate proteasomes and mitochondria
    Sara Al Rawi, Lorna Simpson, Guðrún Agnarsdóttir, Neil Q. McDonald, Veronika Chernuha, Orly Elpeleg, Massimo Zeviani, Roger A. Barker, Ronen Spiegel, Heike Laman
    The FEBS Journal.2024;[Epub]     CrossRef
  • Loss of the parkinsonism‐associated protein FBXO7 in glutamatergic forebrain neurons in mice leads to abnormal motor behavior and synaptic defects
    Jingbo Wang, Sabitha Joseph, Siv Vingill, Ekrem Dere, Lars Tatenhorst, Anja Ronnenberg, Paul Lingor, Christian Preisinger, Hannelore Ehrenreich, Jörg B. Schulz, Judith Stegmüller
    Journal of Neurochemistry.2023; 167(2): 296.     CrossRef
  • Nearly Abolished Dopamine Transporter Uptake in a Patient With a Novel FBXO7 Mutation
    Eun Young Kim, Seon Young Kim, Youngduk Seo, Chaewon Shin
    Journal of Movement Disorders.2022; 15(3): 269.     CrossRef
Letters to the editor
A Rare Case of Late Adult-Onset Niemann-Pick Disease Type C
Ryul Kim, Dallah Yoo, Sangmin Park, Jung Hwan Shin, Ji-Hyun Choi, Han-Joon Kim, Beomseok Jeon
J Mov Disord. 2020;13(2):163-165.   Published online March 18, 2020
DOI: https://doi.org/10.14802/jmd.19077
  • 6,628 View
  • 204 Download
  • 3 Web of Science
  • 3 Crossref
PDFSupplementary Material

Citations

Citations to this article as recorded by  
  • Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature
    Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Koumudi Godbole, Chaitanya Datar, Sheela Nampoothiri, Inusha Panigrahi, Heli Shah, Shruti Bajaj, Naresh Tayade, Naveen Bhardwaj, Harsh Sheth
    JIMD Reports.2024; 65(2): 85.     CrossRef
  • Genetic and phenotypic variability in adult patients with Niemann Pick type C from Serbia: single-center experience
    Nikola Kresojević, Valerija Dobričić, Milica Ječmenica Lukić, Aleksandra Tomić, Igor Petrović, Nataša Dragašević, Ivana Perović, Ana Marjanović, Marija Branković, Milena Janković, Ivana Novaković, Marina Svetel, Vladimir S. Kostić
    Journal of Neurology.2022; 269(6): 3167.     CrossRef
  • Two Patients with Niemann Pick Disease Type C Diagnosed in the Seventh Decade of Life
    Melanie Wu, Rita Ceponiene, Ece Bayram, Irene Litvan
    Movement Disorders Clinical Practice.2020; 7(8): 961.     CrossRef
Brainstem-Predominant Lewy-Related Pathology in a Patient with Parkinson’s Disease without Dementia
Ji-Hyun Choi, Sung-Hye Park, Sung Sup Park, Beomseok Jeon
J Mov Disord. 2020;13(1):74-76.   Published online December 19, 2019
DOI: https://doi.org/10.14802/jmd.19059
  • 4,715 View
  • 99 Download
  • 2 Web of Science
  • 2 Crossref
PDFSupplementary Material

Citations

Citations to this article as recorded by  
  • Morphological differences between the two major subtypes of multiple system atrophy with cognitive impairment
    Kurt A. Jellinger
    Parkinsonism & Related Disorders.2023; 107: 105273.     CrossRef
  • Neuropathological findings in multiple system atrophy with cognitive impairment
    Kurt A. Jellinger
    Journal of Neural Transmission.2020; 127(7): 1031.     CrossRef
Case Report
A Patient with Myotonic Dystrophy Type 1 Presenting as Parkinsonism
Ji-Hyun Choi, Jee-Young Lee, Han-Joon Kim, Beomseok Jeon
J Mov Disord. 2018;11(3):145-148.   Published online September 30, 2018
DOI: https://doi.org/10.14802/jmd.18028
  • 5,726 View
  • 103 Download
  • 1 Web of Science
AbstractAbstract PDF
The current body of literature contains 5 reports of myotonic dystrophy (DM) with parkinsonism: 4 reports of DM type 2 and 1 report of clinically suspected DM type 1. To date, there have been no genetically proven cases of DM type 1 with parkinsonism. Here, we report the first case of genetically proven DM type 1 and parkinsonism that developed ahead of muscle symptoms with bilateral putaminal, presynaptic dopaminergic deficits on imaging. A 54-year-old female patient presented with bradykinesia, axial and bilateral limb rigidity, stooped posture, and hypomimia, which did not respond to levodopa. At age 56, she developed neck flexion weakness. Examination showed bilateral facial weakness, percussion and grip myotonia, and electromyography confirmed myotonic discharges. A genetic study of DM type 1 showed a DMPK mutation. At age 58, gait freezing, postural instability, and frequent falling developed and did not respond to increasing doses of levodopa. At age 59, the patient died from asphyxia.

JMD : Journal of Movement Disorders