2.Purposeless Groaning in Parkinson's Disease
Shen Yang LIM ; Ai Huey TAN ; Jia Lun LIM ; Azlina AHMAD-ANNUAR
Journal of Movement Disorders 2018;11(2):87-88
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).
Humans
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Parkinson Disease
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Prescriptions
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Supranuclear Palsy, Progressive
3.A Patient with Beta-Propeller Protein-Associated Neurodegeneration: Treatment with Iron Chelation Therapy
Shen Yang LIM ; Ai Huey TAN ; Azlina AHMAD-ANNUAR ; Susanne A SCHNEIDER ; Ping Chong BEE ; Jia Lun LIM ; Norlisah RAMLI ; Mohamad Imran IDRIS
Journal of Movement Disorders 2018;11(2):89-92
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.
Brain
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Chelation Therapy
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Cognition
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Extremities
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Gait Apraxia
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Humans
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Iron
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Movement Disorders
4.Loss-of-Function Variant in the SMPD1 Gene in Progressive Supranuclear Palsy-Richardson Syndrome Patients of Chinese Ancestry
Shen-Yang LIM ; Ai Huey TAN ; Jia Nee FOO ; Yi Jayne TAN ; Elaine GY CHEW ; Azlina Ahmad ANNUAR ; Alfand Marl Dy CLOSAS ; Azalea PAJO ; Jia Lun LIM ; Yi Wen TAY ; Anis NADHIRAH ; Jia Wei HOR ; Tzi Shin TOH ; Lei Cheng LIT ; Jannah ZULKEFLI ; Su Juen NGIM ; Weng Khong LIM ; Huw R. MORRIS ; Eng-King TAN ; Adeline SL NG
Journal of Movement Disorders 2024;17(2):213-217
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.
5.Alternating Hemiplegia of Childhood in a Person of Malay Ethnicity with Diffusion Tensor Imaging Abnormalities
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
Journal of Movement Disorders 2019;12(2):132-134
No abstract available.
Diffusion Tensor Imaging
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Diffusion
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Hemiplegia
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Humans
6.A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up
Alfand Marl F. Dy CLOSAS ; Katja LOHMANN ; Ai Huey TAN ; Norlinah Mohamed IBRAHIM ; Jia Lun LIM ; Yi Wen TAY ; Kalai Arasu MUTHUSAMY ; Azlina Binti AHMAD-ANNUAR ; Christine KLEIN ; Shen-Yang LIM
Journal of Movement Disorders 2023;16(1):91-94
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.