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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.
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
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.