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JMD : Journal of Movement Disorders

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Case Reports
Dopa-Responsive Dystonia: A Male Patient Inherited a Novel GCH1 Deletion from an Asymptomatic Mother
Wendi Wang, Baozhong Xin, Heng Wang
J Mov Disord. 2020;13(2):150-153.   Published online March 18, 2020
DOI: https://doi.org/10.14802/jmd.19069
  • 5,439 View
  • 139 Download
  • 1 Web of Science
  • 2 Crossref
AbstractAbstract PDF
Dopa-responsive dystonia (DRD) is a complex genetic disorder with either autosomal dominant or autosomal recessive inheritance, with autosomal dominant being more frequent. Autosomal dominant DRD is known to be caused by mutations in the GCH1 gene, with incomplete penetrance frequently reported, particularly in males. Here, we report a male patient with DRD caused by exon 1 deletion in the GCH1 gene inherited from the asymptomatic mother. The patient had an atypical presentation, notably with no dystonia, and underwent extensive workup for a myriad of neuromuscular disorders before a low-dose L-dopa trial and confirmatory genetic testing were performed. Our experience with this family highlights an atypical presentation of DRD and prompts us to consider the genetic complexity of DRD.

Citations

Citations to this article as recorded by  
  • Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing
    Elisabetta Anna Tendi, Giovanna Morello, Maria Guarnaccia, Valentina La Cognata, Salvatore Petralia, Maria Anna Messina, Concetta Meli, Agata Fiumara, Martino Ruggieri, Sebastiano Cavallaro
    Biomedicines.2023; 11(7): 1899.     CrossRef
  • Study on Mechanism of Cumulative Directional Blasting of Brittle Karst Limestone in the Guizhou Province
    Jie Hu, Yiping Zhang, Chengcheng Fang, Yusong Miao, Xin Zhao, Dengguo Liu, José António Fonseca de Oliveira Correia
    Advances in Materials Science and Engineering.2023; 2023: 1.     CrossRef
A Case of Abnormal Postures in the Left Extremities after Pontine Hemorrhage: Dystonia or Pseudodystonia?
Chan Wook Park, Seok Jong Chung, Young H. Sohn, Phil Hyu Lee
J Mov Disord. 2020;13(1):62-65.   Published online January 31, 2020
DOI: https://doi.org/10.14802/jmd.19074
  • 4,926 View
  • 127 Download
  • 2 Crossref
AbstractAbstract PDFSupplementary Material
It is difficult to determine the pathoanatomical correlates of dystonia because of its complex pathophysiology, and most cases with secondary dystonia are associated with basal ganglia lesions. Moreover, it is a challenging issue that patients with abnormal postures accompanied by other neurological findings in the affected body part (e.g., sensory loss) can be diagnosed with true dystonia or pseudodystonia. Here, we report a case of abnormal postures with loss of proprioception in the left extremities after right dorsal pontine hemorrhage.

Citations

Citations to this article as recorded by  
  • Rehabilitation of hemidystonia as a result of right pontine hemorrhagic stroke
    Melanie Aing, Craig DiTommaso
    The Journal of the International Society of Physical and Rehabilitation Medicine.2023; 6(4): 116.     CrossRef
  • Hemidystonia after Pontine Hemorrhage Successfully Treated with Pharmacotherapy and Intensive Rehabilitation: a Case Report
    Gyu Seong Kim, Yeon Gyu Jeong, Yoon Jeong Jeong, Seo Yeon Yoon
    Brain & Neurorehabilitation.2021;[Epub]     CrossRef
Original Article
Asymptomatic Hearing Impairment Frequently Occurs in Early-Onset Parkinson’s Disease
Kuldeep Shetty, Syam Krishnan, Jissa Vinoda Thulaseedharan, Manju Mohan, Asha Kishore
J Mov Disord. 2019;12(2):84-90.   Published online April 5, 2019
DOI: https://doi.org/10.14802/jmd.18048
  • 13,393 View
  • 271 Download
  • 19 Web of Science
  • 14 Crossref
AbstractAbstract PDF
Objective
Recent reports of hearing impairment in Parkinson’s disease (PD) have suggested that auditory dysfunction could be a non-motor manifestation of PD. These reports were based on observations of elderly patients for whom presbycusis may, to some extent, have contributed to hearing dysfunction. Therefore, we aimed to explore the auditory functions in younger patients with PD. Methods We conducted a case-control study in a relatively younger (< 55 years of age at study time) population of PD patients and healthy volunteers to test whether auditory dysfunction is a significant non-motor dysfunction in PD. Pure tone audiometry (PTA) and brainstem evoked response audiometry (BERA) were performed in all participants. Results None of the patients or controls reported hearing deficits. Fifty-one patients with PD and 50 healthy volunteers who were age- and gender-matched to the patients participated. PTA-detected hearing impairment was found in 64.7% of patients and 28% of controls (p < 0.001) for both low-mid and/or high frequencies. Hearing impairment was more frequent in the younger subgroups of patients than age-matched controls, while the frequency of hearing impairment was similar in older groups of subjects. BERA was not different between patients and controls. Conclusion Asymptomatic auditory dysfunction is a common non-motor manifestation of early-onset PD and more frequent in younger patients, indicating that it may be independent of aging. The mechanism underlying this dysfunction appears to be peripheral, although a central dysfunction cannot be ruled out based on the findings of this study.

Citations

Citations to this article as recorded by  
  • Hearing dysfunction heralds an increase in non-motor burden and a worse quality of life in Parkinson’s disease: new insights from non-motor spectrum
    Elena Garasto, Alessandro Stefani, Mariangela Pierantozzi, Matteo Conti, Arturo Moleti, Renata Sisto, Andrea Viziano, Claudio Liguori, Tommaso Schirinzi, Nicola Biagio Mercuri, Rocco Cerroni
    Neurological Sciences.2024;[Epub]     CrossRef
  • Peripheral hearing in Parkinson’s disease: a systematic review
    Mariana S. Leme, Seisse G. G. Sanches, Renata M. M. Carvallo
    International Journal of Audiology.2023; 62(9): 805.     CrossRef
  • (Zu-)Hören mit alterndem Gehirn – eine kognitive Herausforderung
    Wilma Großmann
    Laryngo-Rhino-Otologie.2023; 102(S 01): S12.     CrossRef
  • Is Hearing Loss a Risk Factor for Idiopathic Parkinson’s Disease? An English Longitudinal Study of Ageing Analysis
    Megan Rose Readman, Fang Wan, Ian Fairman, Sally A. Linkenauger, Trevor J. Crawford, Christopher J. Plack
    Brain Sciences.2023; 13(8): 1196.     CrossRef
  • Hearing Loss and Disorders: The Repercussions of Climate Change
    Sue Sherratt
    American Journal of Audiology.2023; 32(4): 793.     CrossRef
  • Association between hearing sensitivity and dopamine transporter availability in Parkinson’s disease
    Elena Garasto, Alessandro Stefani, Mariangela Pierantozzi, Rocco Cerroni, Matteo Conti, Simone Maranesi, Nicola B Mercuri, Agostino Chiaravalloti, Orazio Schillaci, Andrea Viziano, Arturo Moleti, Renata Sisto
    Brain Communications.2023;[Epub]     CrossRef
  • Identifying Parkinson Risk Markers in Primary Care—Old Associations and New Insights
    Bhavana Patel, Shannon Chiu, Melissa J. Armstrong
    JAMA Neurology.2022; 79(4): 331.     CrossRef
  • Assessment of Risk Factors and Early Presentations of Parkinson Disease in Primary Care in a Diverse UK Population
    Cristina Simonet, Jonathan Bestwick, Mark Jitlal, Sheena Waters, Aaron Ben-Joseph, Charles R. Marshall, Ruth Dobson, Soha Marrium, John Robson, Benjamin M. Jacobs, Daniel Belete, Andrew J. Lees, Gavin Giovannoni, Jack Cuzick, Anette Schrag, Alastair J. No
    JAMA Neurology.2022; 79(4): 359.     CrossRef
  • Auditory impairment in H‐ABC tubulinopathy
    Alejandra Lopez‐Juarez, Arturo Gonzalez‐Vega, Anke Kleinert‐Altamirano, Valeria Piazza, Angeles Garduno‐Robles, Milvia Alata, Carlos Villaseñor‐Mora, Jose R. Eguibar, Carmen Cortes, Luis Carlos Padierna, Victor H. Hernandez
    Journal of Comparative Neurology.2021; 529(5): 957.     CrossRef
  • The Effect of Parkinson's Disease on Otoacoustic Emissions and Efferent Suppression of Transient Evoked Otoacoustic Emissions
    Evelien De Groote, Annelies Bockstael, Dick Botteldooren, Patrick Santens, Miet De Letter
    Journal of Speech, Language, and Hearing Research.2021; 64(4): 1354.     CrossRef
  • Hearing Loss in Neurological Disorders
    Siyu Li, Cheng Cheng, Ling Lu, Xiaofeng Ma, Xiaoli Zhang, Ao Li, Jie Chen, Xiaoyun Qian, Xia Gao
    Frontiers in Cell and Developmental Biology.2021;[Epub]     CrossRef
  • Age-Related Changes in the Cochlea and Vestibule: Shared Patterns and Processes
    Vasiliki Paplou, Nick M. A. Schubert, Sonja J. Pyott
    Frontiers in Neuroscience.2021;[Epub]     CrossRef
  • Auditory Dysfunction in Parkinson's Disease
    Zahra Jafari, Bryan E. Kolb, Majid H. Mohajerani
    Movement Disorders.2020; 35(4): 537.     CrossRef
  • Future Perspectives on the Relevance of Auditory Markers in Prodromal Parkinson's Disease
    Evelien De Groote, Kim De Keyser, Patrick Santens, Durk Talsma, Annelies Bockstael, Dick Botteldooren, Miet De Letter
    Frontiers in Neurology.2020;[Epub]     CrossRef

JMD : Journal of Movement Disorders