Publications by authors named "Anne Y Chan"

Article Synopsis
  • Parkinson's disease (PD) is a progressive movement disorder becoming more common due to an aging population, and researchers aimed to explore rare genetic variants that could help explain its development.
  • Whole-exome sequencing was conducted on a large group of PD cases and controls of Asian ancestry, revealing significant links between the genes GBA1 and SMPD1 and the risk of developing PD, confirmed in additional samples.
  • The research found that specific SMPD1 variants that reduced enzyme activity were particularly associated with PD risk, with a prominent Asian-specific variant being common among carriers.
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Objective: As Hong Kong faced the 5th wave of the COVID-19 pandemic, the facilitators and hurdles toward effective vaccination is important for healthcare professionals to understand the vaccination gap among patients with epilepsy.

Methods: A cross-sectional, pragmatic study of COVID-19 vaccination was performed at a tertiary epilepsy center with regards to patterns of vaccination and any unusually high rate of adverse events. Patients having recent visits at the epilepsy center (4 months) had their anonymized electronic linkage records examined 12 months after the inception of vaccination program for types of vaccines, seizure demographics, and adverse events following immunization (AEFI).

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Background: is an emerging disorder characterized with hypotonia, developmental delay, epilepsy, and movement disorder, which can be potentially life threatening during acute exacerbation. In the USA, deep brain stimulation (DBS) has been licensed for treating children with chronic, treatment-resistant primary dystonia, who are 7 years old or older.

Case Description: A 4-year-old girl diagnosed to have related dyskinesia and severe global developmental delay.

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 Oropharyngeal dysphagia (OPD) is prevalent in patients with Parkinson's disease (PD). Upper esophageal sphincter (UES) dysfunction is an important pathophysiological factor for OPD in PD. The cricopharyngeus (CP) is the main component of UES.

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Background: Stroke not only substantially increases the risk of incident dementia early after stroke but also the risk remains elevated years after.

Aim: We aimed to determine the risk factors of dementia onset more than three to six months after stroke or transient ischemic attack.

Methods: This is a single-center prospective cohort study.

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Genetic testing for neurodegenerative diseases (NDs) is highly challenging because of genetic heterogeneity and overlapping manifestations. Targeted-gene panels (TGPs), coupled with next-generation sequencing (NGS), can facilitate the profiling of a large repertoire of ND-related genes. Due to the technical limitations inherent in NGS and TGPs, short tandem repeat (STR) variations are often ignored.

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Background: Cognitive deficits and eye movement abnormalities have been demonstrated to be detectable early clinical manifestations of Parkinson's disease. Understanding the relationship between these phenotypes may yield insight into the underlying anatomical pathways, assisting in the search for simple non-invasive markers of early neurodegeneration.

Objective: To explore the correlations between eye movement parameters with multi-domain cognitive functions in patients suffering from Parkinson's disease without dementia.

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Background: Given the importance of ethnic differences in the evaluation of various aspects of symptoms in patients with Parkinson's disease (PD), we present the formal procedure for completing the traditional Chinese translation of the International and Parkinson and Movement Disorder Society/UPDRS (MDS-UPDRS) and highlight the discrepancy in nonmotor symptoms (NMS) between patients in Eastern and Western countries.

Methods: A total of 350 native Chinese-speaking PD patients were recruited from multiple hospitals in Eastern countries; they completed the MDS-UPDRS. The translation process was executed and factor analysis was performed to determine the structure of the scale.

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Article Synopsis
  • - The first genome-wide association study (GWAS) on Parkinson's disease (PD) in the Han Chinese population has been conducted, analyzing a total of 22,729 subjects across multiple regions in Asia.
  • - Researchers validated 90 SNPs with significant associations, confirming known risk genes (SNCA, LRRK2, MCCC1) and identifying additional significant loci like DLG2 and SIPA1L2 but found no exclusive Asian-specific risk factors.
  • - The study indicates differences in genetic risk for PD between Europeans and Asians and suggests that further global collaboration could help discover new significant loci related to the disease.
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Hereditary spastic paraplegias (HSPs) are a group of heterogeneous neurodegenerative disorders, which are often presented with overlapping phenotypes such as progressive paraparesis and spasticity. To assist the diagnosis of HSP subtypes, next-generation sequencing is often used to provide supporting evidence. In this study, we report the case of two probands from the same family with HSP symptoms, including bilateral lower limb weakness, unsteady gait, cognitive decline, dysarthria, and slurring of speech since the age of 14.

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Background: The objectives of this study are 1) to examine the frequencies of neuropsychiatric symptom clusters in patients with stroke or transient ischemic attack (TIA) by cognitive level and stroke subtype; and 2) to evaluate effect of demographic, clinical, and neuroimaging measures of chronic brain changes and amyloid upon neuropsychiatric symptom clusters.

Methods: Hospital-based, cross-sectional study. 518 patients were administered the Neuropsychiatric Inventory (NPI) 3-6 months post index admission.

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Background: Leisure activity participation has been shown to lower risks of cognitive decline in non-stroke populations. However, effects of leisure activities participation upon cognitive functions and risk of dementia after stroke are unclear. The purpose of this study is to examine the effects of recent past leisure activities participation upon cognitive functions and risk of incident dementia after stroke.

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Objective: We assessed the effects of bilateral subthalamic nucleus (STN) deep brain stimulation (DBS) in patients with Parkinson disease at the 1-year and 2-year follow-up evaluations. Unified Parkinson's Disease Rating Scale (UPDRS) motor score at "off" medication ("on" DBS) and quality-of-life assessments (39-item Parkinson's Disease Questionnaire [PDQ-39]) were conducted. The percentage of awake "on" time and awake "off" time and levodopa requirement were also assessed.

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Background: Vascular cognitive impairment (VCI) refers to the entire spectrum of cognitive dysfunction attributable to vascular changes in the brain. The objective of this study is to evaluate magnetic resonance imaging (MRI) correlates of performance on the National Institute of Neurological Disorders and Stroke-Canadian Stroke Network (NINDS-CSN) VCI neuropsychology protocols.

Method: Fifty ischemic stroke patients and 50 normal elderly persons completed the VCI protocols and MRI.

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Background And Purpose: The National Institute of Neurological Disorders and Stroke-Canadian Stroke Network Vascular Cognitive Impairment Harmonization working group proposed a brief cognitive protocol for screening of vascular cognitive impairment. We investigated the validity, reliability, and feasibility of the Montreal Cognitive Assessment 5-minute protocol (MoCA 5-minute protocol) administered over the telephone.

Methods: Four items examining attention, verbal learning and memory, executive functions/language, and orientation were extracted from the MoCA to form the MoCA 5-minute protocol.

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Objective: Understanding how symptomatic intracranial atherosclerotic disease (ICAD) evolves with current medical therapy may inform secondary stroke prevention.

Methods: In a prospective academic-initiated study, we recruited 50 patients (mean age = 63.4 ± 9.

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Objective: To present the result and experience of subthalamic nucleus deep brain stimulation for Parkinson's disease.

Design: Case series.

Setting: Prince of Wales Hospital, Hong Kong.

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Tardive dystonia is an iatrogenic complication of dopamine receptor antagonist medication such as first-generation antipsychotics. It occurs in up to 2% of patients and only 10% recover after stopping medication. Deep brain stimulation for primary dystonia has proven to be effective and its application for secondary dystonias is gaining acceptance.

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Background: Deep brain stimulation (DBS) is an effective but costly treatment for patients with advanced Parkinson disease (PD). This study examined the cost-effectiveness of DBS in relation to its improved effectiveness to help funding decision makers decide whether the treatment should be adopted. The incremental cost-effective ratio (ICER) per quality-adjusted life year has been benchmarked as being between US$50,000 and US$100,000 by US agencies, whereas it is less than €30,000 per quality-adjusted life year in Europe.

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Background: Spinocerebellar ataxias (SCAs) are a group of clinically and genetically diverse and autosomal-dominant disorders characterised by neurological deficits in the cerebellum. At present, there is no cure for SCAs. Of the different distinct subtypes of autosomal-dominant SCAs identified to date, causative genes for only a fraction of them are currently known.

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This study examined the validity and reliability of the Neuropsychiatric Inventory Questionnaire version (NPI-Q), a proxy-reported format of the interview-based NPI, in assessing neuropsychiatric symptoms in 173 patients with stroke or transient ischemic attack (TIA) having cognitive impairment. The NPI-Q was validated against the NPI as a gold standard. Informants took approximately 7 minutes to complete the NPI-Q.

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Background And Purpose: We aimed to evaluate the procedural safety, clinical, and angiographic outcome of carotid angioplasty and stenting for high-grade (≥70%) radiation-induced carotid stenosis (RIS) using atherosclerotic stenosis (AS) as a control.

Methods: In this 6-year prospective nonrandomized study, we compared the carotid angioplasty and stenting outcome of 65 consecutive patients (84 vessels) with RIS with that of a control group of 129 consecutive patients (150 vessels) with AS. Study end points were 30-day periprocedural stroke or death, ipsilateral ischemic stroke, technical success, procedural characteristics, instent restenosis (ISR; ≥50%) and symptomatic ISR.

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Background: We hypothesized that chronic brain changes are important substrates for incident dementia after stroke and transient ischemic attack (TIA).

Methods: We compared clinical and imaging features between patients with consecutive stroke/TIA with (n = 88) and without (n = 925) incident dementia at 3 to 6 months after a stroke/TIA. Pittsburg compound B (PiB) positron emission tomography was performed in 50 patients, including those with (n = 37) and without (n = 13) incident dementia.

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To evaluate the contribution of non-synonymous-coding variants of known familial and genome-wide association studies (GWAS)-linked genes for Parkinson's disease (PD) to PD risk in the East Asian population, we sequenced all the coding exons of 39 PD-related disease genes and evaluated the accumulation of rare non-synonymous-coding variants in 375 early-onset PD cases and 399 controls. We also genotyped 782 non-synonymous-coding variants of these genes in 710 late-onset PD cases and 9046 population controls. Significant enrichment of LRRK2 variants was observed in both early- and late-onset PD (odds ratio = 1.

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Factor VII deficiency is an uncommon coagulation disorder that patient usually presents with bleeding diathesis, but thrombotic event has been reported. We report a case of unusual clinical presentation in a patient with undiagnosed factor VII deficiency who presented with acute ischemic stroke.

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