Journal of Movement Disorders

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

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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.

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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

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

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Abstract 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.

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Global prevalence and incidence of Young Onset Parkinson’s disease: A systematic review and meta-analysis
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Journal of Clinical Neuroscience.2024; 125: 59. CrossRef
Study of an FBXO7 patient mutation reveals Fbxo7 and PI31 co‐regulate proteasomes and mitochondria
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Loss of the parkinsonism‐associated protein FBXO7 in glutamatergic forebrain neurons in mice leads to abnormal motor behavior and synaptic defects
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Morphological differences between the two major subtypes of multiple system atrophy with cognitive impairment
Kurt A. Jellinger
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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

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Abstract 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.

Dropped Head Syndrome after Minor Trauma in a Patient with Levosulpiride-Aggravated Vascular Parkinsonism: Soo Hyun Cho, Dokyung Lee, Tae-Beom Ahn; J Mov Disord. 2016;9(2):126-128. Published online March 28, 2016; DOI: https://doi.org/10.14802/jmd.15052

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Oromandibular Dyskinesia as the Initial Manifestation of Late-Onset Huntington Disease: Dong-Seok Oh, Eun-Seon Park, Seong-Min Choi, Byeong-Chae Kim, Myeong-Kyu Kim, Ki-Hyun Cho; J Mov Disord. 2011;4(2):75-77.; DOI: https://doi.org/10.14802/jmd.11016

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Abstract PDF

Huntington’s disease (HD) is a neurodegenerative disorder characterized by a triad of choreoathetosis, dementia and dominant inheritance. The cause of HD is an expansion of CAG trinucleotide repeats in the HD gene. Typical age at onset of symptoms is in the 40s, but the disorder can manifest at any time. Late-onset (≥ 60 years) HD is clinically different from other adult or juvenile onset HD and characterized by mild motor problem as the initial symptoms, shorter disease duration, frequent lack of family history, and relatively low CAG repeats expansion. We report a case of an 80-year-old female with oromandibular dyskinesia as an initial manifestation of HD and 40 CAG repeats.

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Compulsive Shopping in Parkinson’s Disease - A Case Report: Hyun Cho, Ji-hyun Kwan, Hyun-jin Seo; J Mov Disord. 2008;1(2):97-100.; DOI: https://doi.org/10.14802/jmd.08019

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Abstract PDF

Patients with Parkinson’s disease (PD) are at risk of a number of compulsive behaviors associated with dopaminergic drugs. We report one case of unusual compulsive shopping in idiopathic Parkinson disease (IPD) in relation to dopaminergic therapy. The mechanism explaining the behavior in this case is likely related to increased dopaminergic stimulation of non-motor basal ganglia loops. It suggests that perhaps many dopaminergic medications can be associated with compulsive behaviors.

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