A5030026015- Mitochondrial Function and Pathology
- Parkinson's Disease Mechanisms and Treatments
- Genetic Neurodegenerative Diseases
- Myasthenia Gravis and Thymoma
- ATP Synthase and ATPases Research
- Metabolism and Genetic Disorders
- Ion channel regulation and function
- Peripheral Neuropathies and Disorders
- Ocular Diseases and Behçet’s Syndrome
- Nuclear Receptors and Signaling
- Neurological disorders and treatments
- Neurological diseases and metabolism
- Lysosomal Storage Disorders Research
- RNA modifications and cancer
- Ubiquitin and proteasome pathways
- Multiple Sclerosis Research Studies
- Cellular transport and secretion
- Cancer Treatment and Pharmacology
- Antifungal resistance and susceptibility
- Parkinson's Disease and Spinal Disorders
- Botulinum Toxin and Related Neurological Disorders
- Glaucoma and retinal disorders
- Retinal Imaging and Analysis
- Ophthalmology and Eye Disorders
- Autism Spectrum Disorder Research
Ramathibodi Hospital
2013-2023
Mahidol University
2013-2023
University College London
1999-2005
National Hospital for Neurology and Neurosurgery
1999-2001
The mitochondrial myopathies typically affect many organ systems and are associated with mutations in DNA (mtDNA) that maternally inherited. However, there is also a sporadic form of myopathy which exercise intolerance the predominant symptom. We studied biochemical molecular characteristics this myopathy.
Abstract Background As gene‐targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction the estimated number subjects with monogenic PD worldwide currently represented in literature availability clinical data trial‐ready cohorts limited. Objective The objectives to (1) establish an international cohort affected unaffected individuals PD‐linked variants;...
We report on 4 male patients with clinical, radiological, and muscle biopsy findings typical of the mitochondrial encephalomyopathy lactic acidosis stroke-like episodes (MELAS) phenotype. Skeletal DNA (mtDNA) analysis showed that all harbored a heteroplasmic G13513A mutation in ND5 subunit gene. One these cases (Patient 1) presented symptoms characteristic Leber's hereditary optic neuropathy (LHON) 2 years before first episode. Quantitative several postmortem tissue sections relative...
<b><i>Article abstract</i></b> The authors report a novel A5874G mutation in the mitochondrial tRNA tyrosine (tRNA<sup>Tyr</sup>) gene associated with exercise intolerance, limb weakness, and complex III deficiency. was absent blood from patient all maternal family members, indicating that it may be spontaneous somatic muscle. This is first point tRNA<sup>Tyr</sup> human disease further evidence intolerance deficiency genetically heterogeneous.
About 50 % of Thai patients with adult-onset spinocerebellar ataxia (SCA) was Machado-Joseph disease (MJD), SCA1, SCA2 and SCA6. The author investigated further on less common SCAs in the without any known mutations. DNA samples 82 index who were genetically excluded MJD, SCA2, SCA6, SCA7 dentatorubro-pallidoluysian atrophy (DRPLA) examined. Analysis SCA8, SCA10, SCA12, SCA17 SCA19 genes comprehensively performed. Normal range trinucleotide repeat expansion sizes TATA-box-binding protein...
Non-ataxic symptoms of spinocerebellar ataxias (SCAs) vary widely and often overlap with various types SCAs. Duration severity the disease genetic background may play a role in such phenotypic diversity. We conducted study order to clinical characteristics common SCAs Thailand factors that influence their phenotypes. 131 (49.43%) out 265 Thai ataxia families cerebellar degeneration had positive tests for SCA1, SCA2, Machado-Joseph (MJD) or SCA6. The evaluated 83 available including SCA1 (21...
The prevalence of Huntington's disease (HD) among East Asians is less than one-tenth that Caucasians. Such a low may be attributable to lack carriers specific predisposing haplogroups associated with the high instability Huntingtin gene (HTT). aim this study was evaluate association between HTT and occurrence HD in Thai population.CAG-repeat sizes haplotypes were analyzed 18 patients 215 control subjects. Twenty-two tagging single-nucleotide polymorphisms (tSNPs) genotyped.Only from 15...
The authors analyzed the total mitochondrial (mt) genome in 15 patients with classic phenotypes. Novel somatic mtDNA mutations two chronic progressive external ophthalmoplegia were identified. Total automated analysis did not reveal other pathogenic mutations. conclude that phenotypes, including those adult onset, may occur absence of Nuclear gene be cause.
To evaluate the feasibility of using optical coherence tomography (OCT) for detection Alzheimer's disease (AD), by measuring thickness retinal nerve fiber layer (RNFL) and ganglion cell inner plexiform (GCL-IPL).This was a single-center, cross-sectional study. The study included 29 patients with AD (mean age ± standard deviation: 75.61 6.24 years) healthy age- sex-matched controls. All participants underwent cognitive evaluations Montreal Cognitive Assessment test. Measurements RNFL...
To analyze radiological characteristics of the extraocular muscles (EOMs) in myasthenia gravis (MG) patients with ocular manifestations.This retrospective case-control study included all MG cases manifestations, who attended a neuro-ophthalmology clinic at university hospital, Bangkok, from April 2009 to June 2018. They experienced double vision and ophthalmoplegia. Control participants had normal eye movements. Orbital scans were thoroughly reviewed. We measured muscle thickness (MT)...
Exercise intolerance 1 We describe a patient with young-onset severe exercise initially believed to have chronic fatigue. identified novel heteroplasmic nonsense mutation in the mtDNA ND2 gene. suggest mitochondrial investigations should be considered certain patients fatigue, especially those young onset. A 49-year-old woman had experienced since first decade of her life. She was unable engage sports at school and always great difficulty repetitive motor tasks daily life because fatigue...