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Volume 5(2); October 2012
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Review Article
Genetics of Parkinson’s Disease - A Clinical Perspective
Sang-Myung Cheon, Lilian Chan, Daniel Kam Yin Chan, Jae Woo Kim
J Mov Disord. 2012;5(2):33-41.
DOI: https://doi.org/10.14802/jmd.12009
  • 25,130 View
  • 86 Download
  • 9 Citations
AbstractAbstract PDF

Discovering genes following Medelian inheritance, such as autosomal dominant-synuclein and leucine-rich repeat kinase 2 gene, or autosomal recessive Parkin, P-TEN-induced putative kinase 1 gene and Daisuke-Junko 1 gene, has provided great insights into the pathogenesis of Parkinson’s disease (PD). Genes found to be associated with PD through investigating genetic polymorphisms or via the whole genome association studies suggest that such genes could also contribute to an increased risk of PD in the general population. Some environmental factors have been found to be associated with genetic factors in at-risk patients, further implicating the role of gene-environment interactions in sporadic PD. There may be confusion for clinicians facing rapid progresses of genetic understanding in PD. After a brief review of PD genetics, we will discuss the insight of new genetic discoveries to clinicians, the implications of ethnic differences in PD genetics and the role of genetic testing for general clinicians managing PD patients.

Citations

Citations to this article as recorded by  
  • Neuroprotective effect of YIAEDAER peptide against Parkinson’s disease like pathology in zebrafish
    Qingyu Ren, Xin Jiang, Shanshan Zhang, Xin Gao, Yam Nath Paudel, Pengyu Zhang, Rongchun Wang, Kechun Liu, Meng Jin
    Biomedicine & Pharmacotherapy.2022; 147: 112629.     CrossRef
  • Co-treatment with natural HMGB1 inhibitor Glycyrrhizin exerts neuroprotection and reverses Parkinson’s disease like pathology in Zebrafish
    Qingyu Ren, Xin Jiang, Yam Nath Paudel, Xin Gao, Daili Gao, Pengyu Zhang, Wenlong Sheng, Xueliang Shang, Kechun Liu, Xiujun Zhang, Meng Jin
    Journal of Ethnopharmacology.2022; 292: 115234.     CrossRef
  • Comprehensive methylation profile of CSF cfDNA revealed pathogenesis and diagnostic markers for early-onset Parkinson's disease
    Jie Meng, Fenglin Wang, Lei Ji, Yuhua Liang, Wei Nian, Lele Song, Aiqin Zhu
    Epigenomics.2021; 13(20): 1637.     CrossRef
  • Early Expression of Neuronal Dopaminergic Markers in a Parkinson’s Disease Model in Rats Implanted with Enteric Stem Cells (ENSCs)
    Carmen Parra-Cid, Eduardo Orozco-Castillo, Julieta García-López, Elena Contreras-Figueroa, Laura E. Ramos-Languren, Clemente Ibarra, Alfonso Carreón-Rodríguez, Michael Aschner, Mina Königsberg, Abel Santamaría
    CNS & Neurological Disorders - Drug Targets .2020; 19(2): 148.     CrossRef
  • Arylsulfatase A (ASA) in Parkinson’s Disease: From Pathogenesis to Biomarker Potential
    Efthalia Angelopoulou, Yam Nath Paudel, Chiara Villa, Christina Piperi
    Brain Sciences.2020; 10(10): 713.     CrossRef
  • Bioenergetics and Autophagic Imbalance in Patients-Derived Cell Models of Parkinson Disease Supports Systemic Dysfunction in Neurodegeneration
    Ingrid González-Casacuberta, Diana Luz Juárez-Flores, Constanza Morén, Gloria Garrabou
    Frontiers in Neuroscience.2019;[Epub]     CrossRef
  • Mitochondrial and autophagic alterations in skin fibroblasts from Parkinson disease patients with Parkin mutations
    Ingrid González-Casacuberta, Diana-Luz Juárez-Flores, Mario Ezquerra, Raquel Fucho, Marc Catalán-García, Mariona Guitart-Mampel, Ester Tobías, Carmen García-Ruiz, José Carlos Fernández-Checa, Eduard Tolosa, María-José Martí, Josep Maria Grau, Rubén Fernán
    Aging.2019; 11(11): 3750.     CrossRef
  • Implications of DNA Methylation in Parkinson’s Disease
    Ernesto Miranda-Morales, Karin Meier, Ada Sandoval-Carrillo, José Salas-Pacheco, Paola Vázquez-Cárdenas, Oscar Arias-Carrión
    Frontiers in Molecular Neuroscience.2017;[Epub]     CrossRef
  • Exploring the Effects of Genetic Variants on Clinical Profiles of Parkinson’s Disease Assessed by the Unified Parkinson’s Disease Rating Scale and the Hoehn–Yahr Stage
    Chen Shi, Zheng Zheng, Qi Wang, Chaodong Wang, Dabao Zhang, Min Zhang, Piu Chan, Xiaomin Wang, Ornit Chiba-Falek
    PLOS ONE.2016; 11(6): e0155758.     CrossRef
Original Article
Clinical Features and Disability Milestones in Multiple System Atrophy and Progressive Supranuclear Palsy
Sang-Wook Lee, Seong-Beom Koh
J Mov Disord. 2012;5(2):42-47.
DOI: https://doi.org/10.14802/jmd.12010
  • 12,595 View
  • 121 Download
  • 12 Citations
AbstractAbstract PDF

Multiple system atrophy (MSA) and progressive supranuclear palsy (PSP) are an adult-onset progressive neurodegenerative disorder that are known to display diverse clinical features and disease progression. We aim to characterize the clinical features and disease progression in patients with MSA and PSP by using a number of relevant disability milestones in Koreans. Forty-one patients with MSA and 14 patients with PSP had been enrolled. The mean age at onset of MSA-C, MSA-P and PSP was 56.7 ± 7.8, 62.5 ± 8.0, 68.9 ± 6.1 years respectively. The most commonly reported symptom at disease onset is disequilibrium/dizziness in MSA-C, tremor in MSA-P and frequent falling in PSP. The mean duration of reaching milestones after disease onset in MSA-C were as followings: 20.8 (urinary incontinence), 22.9 (frequent falling), 27.8 (wheelchair bound), 31.8 (dysarthria) and 35.8 months (diagnosis). The mean duration of reaching milestones after disease onset were 22.0 (urinary incontinence), 32.6 (frequent falling and diagnosis), 41.2 (dysarthria), 61.4 months (wheelchair bound) in MSA-P and 16.8 (dysarthria), 21.6 (diagnosis), 21.7 (frequent falling), 24.0 months (wheel chair bound) in PSP. In the case of MSA, dizziness may occur for the first time. Thus, when the patient complains of non-specific dizziness, a follow-up examination to distinguish it from MSA can be helpful. There was a trend for patients with MSA-C to reach more disability milestones than in MSA-P and PSP before diagnosis. It may explain why patients with MSA-C are required more detail history taking and neurologic examination at an earlier stage.

Citations

Citations to this article as recorded by  
  • Disease course and treatment patterns in progressive supranuclear palsy: A real-world study
    John C. Morgan, Xiaolan Ye, Jennifer A. Mellor, Keisha J. Golden, Jorge Zamudio, Louis A. Chiodo, Yanjun Bao, Tao Xie
    Journal of the Neurological Sciences.2021; 421: 117293.     CrossRef
  • Progression of Oropharyngeal Dysphagia in Patients with Multiple System Atrophy
    Hui Jae Do, Han Gil Seo, Hyun Haeng Lee, Byung-Mo Oh, Yoon Kim, Aryun Kim, Han-Joon Kim, Beomseok Jeon, Tai Ryoon Han
    Dysphagia.2020; 35(1): 24.     CrossRef
  • Is There a Difference in Autonomic Dysfunction Between Multiple System Atrophy Subtypes?
    Divyani Garg, Achal Kumar Srivastava, Ashok Kumar Jaryal, Roopa Rajan, Akanksha Singh, Awadh Kishor Pandit, Deepti Vibha, Garima Shukla, Ajay Garg, Ravindra Mohan Pandey, Kameshwar Prasad
    Movement Disorders Clinical Practice.2020; 7(4): 405.     CrossRef
  • Models of multiple system atrophy
    He-Jin Lee, Diadem Ricarte, Darlene Ortiz, Seung-Jae Lee
    Experimental & Molecular Medicine.2019; 51(11): 1.     CrossRef
  • Multiple System Atrophy: An Oligodendroglioneural Synucleinopathy1
    Kurt A. Jellinger, George Perry, Jesus Avila, Massimo Tabaton, Xiongwei Zhu
    Journal of Alzheimer's Disease.2018; 62(3): 1141.     CrossRef
  • Present and future of disease-modifying therapies in multiple system atrophy
    Miguel Lopez-Cuina, Alexandra Foubert-Samier, François Tison, Wassilios G. Meissner
    Autonomic Neuroscience.2018; 211: 31.     CrossRef
  • Different subregional metabolism patterns in patients with cerebellar ataxia by 18F-fluorodeoxyglucose positron emission tomography
    Minyoung Oh, Jae Seung Kim, Jungsu S. Oh, Chong Sik Lee, Sun Ju Chung, Byeong-Cheol Ahn
    PLOS ONE.2017; 12(3): e0173275.     CrossRef
  • Vestibular Deficits in Neurodegenerative Disorders: Balance, Dizziness, and Spatial Disorientation
    Thomas Cronin, Qadeer Arshad, Barry M. Seemungal
    Frontiers in Neurology.2017;[Epub]     CrossRef
  • Progressive supranuclear palsy: progression and survival
    Julieta E. Arena, Stephen D. Weigand, Jennifer L. Whitwell, Anhar Hassan, Scott D. Eggers, Günter U. Höglinger, Irene Litvan, Keith A. Josephs
    Journal of Neurology.2016; 263(2): 380.     CrossRef
  • Multiple system atrophy: pathogenic mechanisms and biomarkers
    Kurt A. Jellinger, Gregor K. Wenning
    Journal of Neural Transmission.2016; 123(6): 555.     CrossRef
  • Urinary Dysfunction in Progressive Supranuclear Palsy Compared with Other Parkinsonian Disorders
    Tatsuya Yamamoto, Fuyuki Tateno, Ryuji Sakakibara, Shogo Furukawa, Masato Asahina, Tomoyuki Uchiyama, Shigeki Hirano, Yoshitaka Yamanaka, Miki Fuse, Yasuko Koga, Mitsuru Yanagisawa, Satoshi Kuwabara, Jong-Ling Fuh
    PLOS ONE.2016; 11(2): e0149278.     CrossRef
  • Movement and Other Neurodegenerative Syndromes in Patients with Systemic Rheumatic Diseases
    Rikitha Menezes, Alexander Pantelyat, Izlem Izbudak, Julius Birnbaum
    Medicine.2015; 94(31): e0971.     CrossRef
Case Reports
A Case of Multiple System Atrophy-Cerebellar Type Preceded by Dementia
Eun Hye Jang, Joo Kyung Lee, Hyun Jung Jang, Mi-Jung Kim, Sun Ju Chung
J Mov Disord. 2012;5(2):48-52.
DOI: https://doi.org/10.14802/jmd.12011
  • 14,962 View
  • 88 Download
  • 3 Citations
AbstractAbstract PDF

Multiple system atrophy (MSA) is a sporadic, adult-onset disease characterized by progressive degeneration of nervous systems including cerebellar, pyramidal, extrapyramidal, and autonomic system. Although a few recent studies reported that cognitive impairments could occur in patients with MSA, prominent dementia with progressive decline is not a typical clinical manifestation of MSA. In particular, dementia with MSA-cerebellar type is very rare. We have experienced a patient with 2-year history of severe cognitive impairment, who was finally diagnosed as MSA-cerebellar type.

Citations

Citations to this article as recorded by  
  • Mitochondrial dysfunction and altered ribostasis in hippocampal neurons with cytoplasmic inclusions of multiple system atrophy
    Norihisa Maeda, Hiroyuki Honda, Satoshi O. Suzuki, Naoki Fujii, Jun-ichi Kira, Toru Iwaki
    Neuropathology.2018; 38(4): 361.     CrossRef
  • Mechanisms and prevention of sudden death in multiple system atrophy
    Takayoshi Shimohata, Naotaka Aizawa, Hideaki Nakayama, Hiroshige Taniguchi, Yasuyoshi Ohshima, Hitoshi Okumura, Tetsuya Takahashi, Akio Yokoseki, Makoto Inoue, Masatoyo Nishizawa
    Parkinsonism & Related Disorders.2016;[Epub]     CrossRef
  • Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders
    Erin E. Robertson, Deborah A. Hall, Andrew R. McAsey, Joan A. O’Keefe
    The Clinical Neuropsychologist.2016; 30(6): 849.     CrossRef
Attention in Parkinson’s Disease Mimicking Suggestion in Psychogenic Movement Disorder
Jong Sam Baik
J Mov Disord. 2012;5(2):53-54.
DOI: https://doi.org/10.14802/jmd.12012
  • 12,335 View
  • 56 Download
  • 3 Citations
AbstractAbstract PDF

The various reported psychogenic movement disorders (PMDs) include tremor, dystonia, myoclonus, gait disorder, Parkinsonism, tics, and chorea. Although it is not easy to diagnose PMDs, several features such as distractibility, entrainment, suggestion and placebo trial are quite helpful to diagnose. Especially, distractibility or suggestion is a good tool to do in outpatient clinic easily. We describe a patient with parkinsonian features which were improved by internal suggestion to focusing attention. Initially, we suspected her diagnosis as PMDs; however she was confirmed with organic Parkinson’s disease later.

Citations

Citations to this article as recorded by  
  • Functional neurological disorder and placebo and nocebo effects: shared mechanisms
    Mirta Fiorio, Miriam Braga, Angela Marotta, Bernardo Villa-Sánchez, Mark J. Edwards, Michele Tinazzi, Diletta Barbiani
    Nature Reviews Neurology.2022; 18(10): 624.     CrossRef
  • Functional Motor Symptoms in Parkinson’s Disease and Functional Parkinsonism: A Systematic Review
    Marine Ambar Akkaoui, Pierre A. Geoffroy, Emmanuel Roze, Bertrand Degos, Béatrice Garcin
    The Journal of Neuropsychiatry and Clinical Neurosciences.2020; 32(1): 4.     CrossRef
  • Somatization in Parkinson's Disease: A systematic review
    Danilo Carrozzino, Per Bech, Chiara Patierno, Marco Onofrj, Bo Mohr Morberg, Astrid Thomas, Laura Bonanni, Mario Fulcheri
    Progress in Neuro-Psychopharmacology and Biological Psychiatry.2017; 78: 18.     CrossRef
A Case of Intractable Psychogenic Essential Palatal Tremor
Eun Joo Chung, Hyun Jung, Sang Jin Kim
J Mov Disord. 2012;5(2):55-56.
DOI: https://doi.org/10.14802/jmd.12013
  • 10,049 View
  • 70 Download
  • 1 Citations
AbstractAbstract PDF

Essential palatal tremor (EPT) is a rare disorder which shows rhythmic involuntary movement of the muscles of soft palate, especially tensor veli palatini muscle. EPT is classified by two subtypes, which is primary and secondary EPT. Secondary EPT includes psychogenic type. We describe a case of intractable psychogenic EPT.

Citations

Citations to this article as recorded by  
  • Botulinum toxin treatment for essential palatal tremors presenting with nasal clicks instead of pulsatile tinnitus: a case report
    Yufeng Ye, Shiyu Liao, Baozhen Luo, Liyan Ni
    Head & Face Medicine.2016;[Epub]     CrossRef

JMD : Journal of Movement Disorders