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Ai Huey Tan,Tien Lee Ong,Norlisah Ramli,Li Kuo Tan,Jia Lun Lim,Mohamad Addin Azhan,Azlina Ahmad Annuar,Khairul Azmi Ibrahim,Zariah Abdul-Aziz,Laurie J. Ozelius,Allison Brashear,Shen-Yang LIM 대한파킨슨병및이상운동질환학회 2019 Journal Of Movement Disorders Vol.12 No.2
Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmentaldisorder with an incidence of one per million,characterized by paroxysmal alternating hemiplegia, eye movementabnormalities, dystonia, and epilepsy.1 In 2012, mutationsin the ATP1A3 gene encoding the Na+-K+-ATPase α3 subunit(originally discovered in rapid-onset dystonia-parkinsonism)were identified as the cause for AHC.1,2 However, the diagnosisof AHC is still often delayed or missed. We report a case of AHCdiagnosed in adulthood; to our knowledge, this is the first reportin a person of Malay ethnicity.
Ai Huey Tan,Shen-Yang LIM 대한파킨슨병및이상운동질환학회 2023 Journal Of Movement Disorders Vol.16 No.2
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.
Fecal Calprotectin in Parkinson’s Disease and Multiple System Atrophy
Jia Wei Hor,Ai Huey Tan 대한파킨슨병및이상운동질환학회 2022 Journal Of Movement Disorders Vol.15 No.2
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.
Shen-Yang LIM,Ai Huey Tan,Azlina Ahmad Annuar,Susanne A. Schneider,Ping Chong Bee,Jia Lun Lim,Norlisah Ramli,Mohamad Imran Idris 대한파킨슨병및이상운동질환학회 2018 Journal Of Movement Disorders Vol.11 No.2
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.
Purposeless Groaning in Parkinson's Disease
Shen-Yang LIM,Ai Huey Tan,Jia Lun Lim,Azlina Ahmad Annuar 대한파킨슨병및이상운동질환학회 2018 Journal Of Movement Disorders Vol.11 No.2
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).
Si Lei Fong,Ai Huey Tan,Kar Foo Lau,Norlisah Ramli,Shen-Yang LIM 대한파킨슨병및이상운동질환학회 2019 Journal Of Movement Disorders Vol.12 No.3
Hemichorea-hemiballismus is characterized by unilateral, brief, unpredictable involuntary movements of one side of the body (upper and lower limbs and sometimes also affecting the face). The most common causes for this condition are strokes, hyperglycemia-associated hemichorea-hemiballismus, and other focal lesions affecting the basal ganglia
Sharifah Azira Taufik,Norlina Ramli,Ai Huey Tan,Shen-Yang Lim,Mohd Taufiq Abdul Ghani,Nortina Shahrizaila 대한신경과학회 2024 Journal of Clinical Neurology Vol.20 No.3
Background and Purpose There is increasing evidence that the anterior visual pathways are involved in neurodegenerative diseases including amyotrophic lateral sclerosis (ALS) and Parkinson’s disease (PD). This study investigated longitudinal changes in retinal nerve fiber layer (RNFL) thickness in patients with ALS and PD with the aim of better understanding their roles as biomarkers of disease progression. Methods This study recruited 21 ALS patients, 19 age-matched PD patients, and 21 agematched healthy controls. Patient demographics and clinical scores relating to the respective diseases were documented. The RNFL thickness was measured using optical coherence tomography at baseline and after 6 months. Results At baseline, the RNFL in the superior quadrant was significantly thinner in the patients with ALS than in healthy controls (109.90±22.41 μm vs. 127.81±17.05 μm [mean±standard deviation], p=0.008). The RNFL thickness did not differ significantly between the ALS and PD patients or between the PD patients and healthy controls. At 6 months, there was further significant RNFL thinning in patients with ALS, for both the overall thickness (baseline: median=94.5 μm, range=83.0–106.0 μm; follow-up: median=93.5 μm, range=82.5–104.5 μm, p=0.043) and the thickness in the inferior quadrant (median=126 μm, range=109.5–142.5 μm; and median= 117.5 μm, range=98.5–136.5 μm; respectively, p=0.032). However, these changes were not correlated with the ALS functional scores. In contrast, the patients with PD did not demonstrate a significant change in RNFL thickness between the two time points. Conclusions The RNFL thickness is a promising biomarker of disease progression in patients with ALS but not in those with PD, which has a slower disease progression.