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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).
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.