Ya-fang Chen

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Paroxysmal kinesigenic dyskinesia is the most common type of paroxysmal movement disorder and is often misdiagnosed clinically as epilepsy. Using whole-exome sequencing followed by Sanger sequencing, we identified three truncating mutations within PRRT2 (NM_145239.2) in eight Han Chinese families with histories of paroxysmal kinesigenic dyskinesia:(More)
Our aim in this study was to explore the neural substrates of executive function in frontal and nonfrontal white matter using diffusion tensor imaging (DTI). We studied the relationship between executive dysfunction and DTI measurements on 13 subjects with amnesic mild cognitive impairment (aMCI), 11 subjects with early Alzheimer's disease (AD), and 16(More)
To numerically and experimentally investigate the robustness of intravoxel incoherent motion (IVIM) magnetic resonance imaging in measuring perfusion indexes in the human brain. Eighteen healthy volunteers were imaged on a 3 T clinical system. Data of IVIM imaging (12 b-values ranging from 0 to 1000 s/mm2, 12 repetitions) were fitted with a bi-exponential(More)
Spinal muscular atrophy (SMA) is a common and lethal autosomal recessive neurodegenerative disorder, which is caused by mutations of the survival motor neuron 1 (SMN1) gene. Additionally, the phenotype is modified by several genes nearby SMN1 in the 5q13 region. In this study, we analyzed mutations in SMN1 and quantified the modifying genes, including SMN2,(More)
BACKGROUND Arterial dissection involving cervicocranial arteries usually results in ischemia or SAH. This study correlated the clinical manifestations, image characteristics, and outcome of arterial dissection and compared the differences between arterial dissection of anterior and posterior circulation at our institute. METHODS Clinical symptoms and(More)
Longitudinal changes in cortical atrophy, ventricular enlargement, and lesion development in serial MRI scans collected from 47 healthy dogs from 1999 (8-11 years old) to 2002 (11-14 years old) were studied. The first method involved manual region of interest volumetric analysis to examine changes in cerebral and ventricular volume during the three years.(More)
PURPOSE To prospectively evaluate regional alterations in the apparent diffusion coefficient (ADC) of cortical gray and white matter and subcortical structures that are known to be involved in mild cognitive impairment (MCI). MATERIALS AND METHODS Magnetic resonance (MR) imaging was performed in 13 patients with MCI (nine men, four women; mean age, 74(More)
PURPOSE To analyze the diagnostic effectiveness and application of computed tomographic (CT) angiography by using a new algorithm (hybrid CT angiography) in dural arteriovenous fistulas (AVFs). MATERIALS AND METHODS Institutional review board approval was obtained for retrospectively postprocessing the raw data from CT angiography by using hybrid CT,(More)
BACKGROUND/AIMS A quantitative method was applied to measure the volume of white matter hyperintensity (WMH) in different brain regions of subjects with Alzheimer's disease (AD), mild cognitive impairment (MCI) and normal healthy age-matched controls, and the relationship between regional WMH and age and cognitive function was investigated. METHODS(More)
Neurofibrillary tangles are associated with cognitive dysfunction, and hippocampal atrophy with increased CSF tau markers. However, the plasma tau levels of Alzheimer's disease (AD) have not been well studied. We investigated plasma tau by using an immunomagnetic reduction assay in 20 patients with mild cognitive impairment (MCI) due to AD, 10 early AD(More)