Journal of Movement Disorders

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

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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.

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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

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Abstract PDF Supplementary 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.

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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

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Abstract 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.

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Siyu Li, Cheng Cheng, Ling Lu, Xiaofeng Ma, Xiaoli Zhang, Ao Li, Jie Chen, Xiaoyun Qian, Xia Gao
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