MyMedR

Fulltext Hyperglycemia-Associated Hemichorea-Hemiballismus with Predominant Ipsilateral Putaminal Abnormality on Neuroimaging

Fong SL, Tan AH, Lau KF, Ramli N, Lim SY

J Mov Disord, 2019 Sep;12(3):187-189.

PMID: 31390855 DOI: 10.14802/jmd.19014

Fulltext Anti-GABAB Receptor Encephalitis Presenting with Atypical Corticobasal Syndrome in a Patient with Parkinson's Disease

Abdullah NS, Jan TH, Remli R, Mukari SAM, Ibrahim NM

J Mov Disord, 2020 Sep;13(3):235-237.

PMID: 32894902 DOI: 10.14802/jmd.20011

Fulltext Peak-Dose Ballism Associated with Declining Implantable Pulse Generator Battery Life in Deep Brain Stimulation for Parkinson's Disease

Jen-Rei DC, Thien LT, Keong LH, Leng HW, Phokaewvarangkul O, Bhidayasiri R

J Mov Disord, 2021 May;14(2):166-169.

PMID: 33278867 DOI: 10.14802/jmd.20078

Fulltext A Patient with Beta-Propeller Protein-Associated Neurodegeneration: Treatment with Iron Chelation Therapy

Lim SY, Tan AH, Ahmad-Annuar A, Schneider SA, Bee PC, Lim JL, et al.

J Mov Disord, 2018 May;11(2):89-92.

PMID: 29860786 DOI: 10.14802/jmd.17082

We present a case of beta-propeller protein-associated neurodegeneration, a form of neurodegeneration with brain iron accumulation. The patient harbored a novel mutation in the WDR45 gene. A detailed video and description of her clinical condition are provided. Her movement disorder phenomenology was characterized primarily by limb stereotypies and gait dyspraxia. The patient's disability was advanced by the time iron-chelating therapy with deferiprone was initiated, and no clinical response in terms of cognitive function, behavior, speech, or movements were observed after one year of treatment.

Fulltext Purposeless Groaning in Parkinson's Disease

Lim SY, Tan AH, Lim JL, Ahmad-Annuar A

J Mov Disord, 2018 May;11(2):87-88.

PMID: 29860787 DOI: 10.14802/jmd.18004

Purposeless groaning has been reported in advanced progressive supranuclear palsy. We present a case of purposeless groaning occurring as a primary complaint in a patient with advanced Parkinson's disease. Purposeless groaning is thought to be a manifestation of disinhibition and perseveration due to frontal-subcortical dysfunction. Proper recognition of this phenomenon will help clinicians to avoid unnecessary investigations and treatment (e.g., prescription of opioid medications).

Fulltext Chorea in Sporadic Creutzfeldt-Jakob Disease

Tan AH, Toh TH, Low SC, Fong SL, Chong KK, Lee KW, et al.

J Mov Disord, 2018 Sep;11(3):149-151.

PMID: 30086616 DOI: 10.14802/jmd.18017

Fulltext Alternating Hemiplegia of Childhood in a Person of Malay Ethnicity with Diffusion Tensor Imaging Abnormalities

Tan AH, Ong TL, Ramli N, Tan LK, Lim JL, Azhan MA, et al.

J Mov Disord, 2019 May;12(2):132-134.

PMID: 31158946 DOI: 10.14802/jmd.18063

Fulltext COVID-19 Associated Acute Necrotizing Encephalopathy Presenting as Parkinsonism and Myorhythmia

Ong TL, Nor KM, Yusoff Y, Sapuan S

J Mov Disord, 2022 Jan;15(1):89-92.

PMID: 34781632 DOI: 10.14802/jmd.21063

Fulltext Fecal Calprotectin in Parkinson's Disease and Multiple System Atrophy

Hor JW, Lim SY, Khor ES, Chong KK, Song SL, Ibrahim NM, et al.

J Mov Disord, 2021 Dec 24.

PMID: 34937162 DOI: 10.14802/jmd.21085

Objective: Converging evidence suggests that intestinal inflammation is involved in the pathogenesis of neurodegenerative diseases. Previous studies on fecal calprotectin in Parkinson's disease (PD) were limited by small sample sizes, and literature regarding intestinal inflammation in multiple system atrophy (MSA) is very scarce. We investigated the levels of fecal calprotectin, a marker of intestinal inflammation, in PD and MSA.

Methods: We recruited 169 subjects (71 PD, 38 MSA, and 60 age-similar nonneurological controls). Clinico-demographic data were collected. PD and MSA were subtyped and the severity assessed using the MDS-UPDRS and UMSARS, respectively. Fecal calprotectin and blood immune markers were analyzed.

Results: Compared to controls (median: 35.7 [IQR: 114.2] μg/g), fecal calprotectin was significantly elevated in PD (median: 95.6 [IQR: 162.1] μg/g, p = 0.003) and even higher in MSA (median: 129.5 [IQR: 373.8] μg/g, p = 0.002). A significant interaction effect with age was observed; between-group differences were significant only in older subjects (i.e., ≥ 61 years) and became more apparent with increasing age. A total of 28.9% of MSA and 18.3% of PD patients had highly abnormal fecal calprotectin levels (≥ 250 μg/g); however, this difference was only significant for MSA compared to controls. Fecal calprotectin correlated moderately with selected blood immune markers in PD, but not with clinical features of PD or MSA.

Conclusions: Elevated fecal calprotectin suggests a role for intestinal inflammation in PD and MSA. A more complete understanding of gut immune alterations could open up new avenues of research and treatment for these debilitating diseases.

Fulltext Labrune's Syndrome Presenting With Stereotypy-Like Movements and Psychosis: A Case Report and Review

Sim CY, Mukari SAM, Ngu LH, Loh CY, Remli R, Ibrahim NM

J Mov Disord, 2021 Dec 24.

PMID: 34937159 DOI: 10.14802/jmd.21120

Labrune's syndrome, or leukoencephalopathy with brain calcifications and cysts (LCC), is a rare genetic syndrome with variable neurological presentations. Psychiatric manifestations and involuntary movements are uncommonly reported. We report the case of a 19-year-old female, initially diagnosed with Fahr's syndrome, who presented to us with acute psychosis, abnormal behavior and involuntary movements. Her brain computed tomography showed extensive bilateral intracranial calcifications without cysts. Genetic testing detected two compound heterozygous variants, NR_033294.1 n.*9C>T and n.24C>T, in the SNORD118 gene, confirming the diagnosis of LCC. We discuss the expanding phenotypic spectrum of LCC and provide a literature review on the current diagnosis and management of this rare syndrome.

Fulltext A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up

Closas AMFD, Lohmann K, Tan AH, Ibrahim NM, Lim JL, Tay YW, et al.

J Mov Disord, 2023 Jan;16(1):91-94.

PMID: 36537064 DOI: 10.14802/jmd.22109

KMT2B-linked dystonia (DYT-KMT2B) is a childhood-onset dystonia syndrome typically beginning in the lower limbs and progressing caudocranially to affect the upper limbs with eventual prominent craniocervical involvement. Despite its recent recognition, it now appears to be one of the more common monogenic causes of dystonia syndromes. Here, we present an atypical case of DYT-KMT2B with oromandibular dystonia as the presenting feature, which remained restricted to this region three decades after symptom onset. This appears to be the first reported case of DYT-KMT2B from Southeast Asia and provides further supporting evidence for the pathogenic impact of the KMT2B c.6210_6213delTGAG variant.

Fulltext Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution

Jagota P, Ugawa Y, Aldaajani Z, Ibrahim NM, Ishiura H, Nomura Y, et al.

J Mov Disord, 2023 Sep;16(3):231-247.

PMID: 37309109 DOI: 10.14802/jmd.23065

Clinical case studies and reporting are important to the discovery of new disorders and the advancement of medical sciences. Both clinicians and basic scientists play equally important roles leading to treatment discoveries for both cures and symptoms. In the field of movement disorders, exceptional observation of patients from clinicians is imperative, not just for phenomenology but also for the variable occurrences of these disorders, along with other signs and symptoms, throughout the day and the disease course. The Movement Disorders in Asia Task Force (TF) was formed to help enhance and promote collaboration and research on movement disorders within the region. As a start, the TF has reviewed the original studies of the movement disorders that were preliminarily described in the region. These include nine disorders that were first described in Asia: Segawa disease, PARK-Parkin, X-linked dystonia-parkinsonism, dentatorubral-pallidoluysian atrophy, Woodhouse-Sakati syndrome, benign adult familial myoclonic epilepsy, Kufor-Rakeb disease, tremulous dystonia associated with mutation of the calmodulin-binding transcription activator 2 gene, and paroxysmal kinesigenic dyskinesia. We hope that the information provided will honor the original researchers and help us learn and understand how earlier neurologists and basic scientists together discovered new disorders and made advances in the field, which impact us all to this day.

Fulltext Historical and More Common Nongenetic Movement Disorders From Asia

Ibrahim NM, Jagota P, Pal PK, Bhidayasiri R, Lim SY, Ugawa Y, et al.

J Mov Disord, 2023 Sep;16(3):248-260.

PMID: 37291830 DOI: 10.14802/jmd.22224

Nongenetic movement disorders are common throughout the world. The movement disorders encountered may vary depending on the prevalence of certain disorders across various geographical regions. In this paper, we review historical and more common nongenetic movement disorders in Asia. The underlying causes of these movement disorders are diverse and include, among others, nutritional deficiencies, toxic and metabolic causes, and cultural Latah syndrome, contributed by geographical, economic, and cultural differences across Asia. The industrial revolution in Japan and Korea has led to diseases related to environmental toxin poisoning, such as Minamata disease and β-fluoroethyl acetate-associated cerebellar degeneration, respectively, while religious dietary restriction in the Indian subcontinent has led to infantile tremor syndrome related to vitamin B12 deficiency. In this review, we identify the salient features and key contributing factors in the development of these disorders.

Fulltext Management of Parkinson's Disease in the COVID-19 Pandemic and Future Perspectives in the Era of Vaccination

Lau YH, Lau KM, Ibrahim NM

J Mov Disord, 2021 Sep;14(3):177-183.

PMID: 34315207 DOI: 10.14802/jmd.21034

The current coronavirus disease 2019 (COVID-19) pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has led to a serious global health crisis. Increasing evidence suggests that elderly individuals with underlying chronic diseases, including Parkinson's disease (PD), are particularly vulnerable to this infection. Changes in the routine care of PD patients should be implemented carefully without affecting the quality provided. The utilization of telemedicine for clinical consultation, assessment and rehabilitation has also been widely recommended. Therefore, the aim of this review is to provide recommendations in the management of PD during the pandemic as well as in the early phase of vaccination programs to highlight the potential sequelae and future perspectives of vaccination and further research in PD. Even though a year has passed since COVID- 19 emerged, most of us are still facing great challenges in providing a continuum of care to patients with chronic neurological disorders. However, we should regard this health crisis as an opportunity to change our routine approach in managing PD patients and learn more about the impact of SARS-CoV-2. Hopefully, PD patients can be vaccinated promptly, and more detailed research related to PD in COVID-19 can still be carried out.

Fulltext Gastrointestinal Dysfunction in Parkinson's Disease: Neuro-Gastroenterology Perspectives on a Multifaceted Problem

Tan AH, Chuah KH, Beh YY, Schee JP, Mahadeva S, Lim SY

J Mov Disord, 2023 May;16(2):138-151.

PMID: 37258277 DOI: 10.14802/jmd.22220

Patients with Parkinson's disease (PD) face a multitude of gastrointestinal (GI) symptoms, including nausea, bloating, reduced bowel movements, and difficulties with defecation. These symptoms are common and may accumulate during the course of PD but are often under-recognized and challenging to manage. Objective testing can be burdensome to patients and does not correlate well with symptoms. Effective treatment options are limited. Evidence is often based on studies in the general population, and specific evidence in PD is scarce. Upper GI dysfunction may also interfere with the pharmacological treatment of PD motor symptoms, which poses significant management challenges. Several new less invasive assessment tools and novel treatment options have emerged in recent years. The current review provides an overview and a practical approach to recognizing and diagnosing common upper and lower GI problems in PD, e.g., dyspepsia, gastroparesis, small bowel dysfunction, chronic constipation, and defecatory dysfunction. Management aspects are discussed based on the latest evidence from the PD and general populations, with insights for future research pertaining to GI dysfunction in PD.

Fulltext Neurological perspectives should be integrated into the management of tardive dyskinesia - expert opinion and proposed educational initiatives in Asia

Bhidayasiri R, Phokaewvarangkul O, Lim TT, Pal PK, Watanabe H, Cho JW, et al.

J Mov Disord, 2024 Apr 11.

PMID: 38600683 DOI: 10.14802/jmd.24068

Fulltext Loss-of-Function Variant in the SMPD1 Gene in Progressive Supranuclear Palsy-Richardson Syndrome Patients of Chinese Ancestry

Lim SY, Tan AH, Foo JN, Tan YJ, Chew EG, Annuar AA, et al.

J Mov Disord, 2024 Apr;17(2):213-217.

PMID: 38291878 DOI: 10.14802/jmd.24009

Lysosomal dysfunction plays an important role in neurodegenerative diseases, including Parkinson's disease (PD) and possibly Parkinson-plus syndromes such as progressive supranuclear palsy (PSP). This role is exemplified by the involvement of variants in the GBA1 gene, which results in a deficiency of the lysosomal enzyme glucocerebrosidase and is the most frequently identified genetic factor underlying PD worldwide. Pathogenic variants in the SMPD1 gene are a recessive cause of Niemann-Pick disease types A and B. Here, we provide the first report on an association between a loss-of-function variant in the SMPD1 gene present in a heterozygous state (p.Pro332Arg/p.P332R, which is known to result in reduced lysosomal acid sphingomyelinase activity), with PSP-Richardson syndrome in three unrelated patients of Chinese ancestry.

Fulltext Cough as a presenting symptom in Wilson's Disease

Phua CS, Bhaskar S, Bertram K

J Mov Disord, 2024 Apr;17(2):218-219.

PMID: 38062717 DOI: 10.14802/jmd.23221

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