Identification of Risk Loci for Parkinson Disease in Asians and Comparison of Risk Between Asians and Europeans: A Genome-Wide Association Study.

Importance: Large-scale genome-wide association studies in the European population have identified 90 risk variants associated with Parkinson disease (PD); however, there are limited studies in the largest population worldwide (ie, Asian).

Objectives: To identify novel genome-wide significant loci for PD in Asian individuals and to compare genetic risk between Asian and European cohorts.

Design Setting, And Participants: Genome-wide association data generated from PD cases and controls in an Asian population (ie, Singapore/Malaysia, Hong Kong, Taiwan, mainland China, and South Korea) were collected from January 1, 2016, to December 31, 2018, as part of an ongoing study.

Evaluating Mild Cognitive Dysfunction in Patients with Parkinson's Disease in Clinical Practice in Taiwan.

Our study aimed to examine the contribution of commonly used tools, including the Mini-Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA), and develop a formula for conversion of these tests in the Chinese population. We also create a predictive model for the detection of Chinese patients' mild cognitive impairment (MCI). We recruited 168 patients with Parkinson's disease (PD) from 12 medical centres or teaching hospitals in Taiwan, and each participant received a comprehensive neuropsychological assessment.

Variability of presynaptic nigrostriatal dopaminergic function and clinical heterogeneity in a dopa-responsive dystonia family with GCH-1 gene mutation.

We studied the presynaptic nigrostriatal dopaminergic function using single photon emission computed tomography (SPECT) imaging of a Tc-TRODAT-1 (TRODAT) scan in a dopa-responsive dystonia (DRD) family with the guanosine triphosphate cyclohydrolase 1 (GCH-1) gene mutation. Clinically, there was presentation of intrafamilial variability in the DRD family. The index patient was a 10-year-old girl with classic DRD and normal presynaptic nigrostriatal dopaminergic function.

Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study.

A recent study MacLeod et al. has shown that an interaction between variants at the LRRK2 and PARK16 loci influences risk of development of Parkinson's disease (PD). Our study examines the proposed interaction between LRRK2 and PARK16 variants in modifying PD risk using a large multicenter series of PD patients (7715) and controls (8261) from sites participating in the Genetic Epidemiology of Parkinson's Disease Consortium.

PDD-5S: A useful screening tool for Parkinson's disease dementia.

Introduction: Parkinson's disease dementia (PDD) contributes to poor quality of life and increases the mortality risk. Early detection and diagnosis of PDD are essential for clinical care.

Methods: We recruited patients with idiopathic Parkinson's disease (PD), who underwent clinical assessments and neuropsychological tests, at 12 teaching hospitals in Taiwan.

Prevalence and risk factors of cognitive impairment in Parkinson disease: a population-based case-control study in Taiwan.

The aim of this study was to evaluate the Parkinson disease (PD) prevalence of cognitive impairment in Taiwan.The case-control study consisted of 6177 cognitive impairment patients and 24,708 noncognitive impairment as controls for the period of 2006 to 2010 and both of the groups aged ≥50 years. The multivariable logistic regression analyses were used to estimate the odds ratio (OR) for cognitive impairment, and the 95% confidence intervals (CIs) among patients with PD were compared with those of non-PD patients.

TREM2 R47H variant and risk of essential tremor: a cross-sectional international multicenter study.

Introduction: Essential tremor (ET) is the most frequent movement disorder in adults. Its pathophysiology is not clearly understood, however there is growing evidence showing common etiologic factors with other neurodegenerative disorders such as Alzheimer's and Parkinson's diseases (AD, PD). Recently, a rare p.

Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization.

Objective: To elucidate the clinical and cellular characteristics of spinocerebellar ataxia type 35 (SCA35), which is caused by mutations in the TGM6 gene encoding transglutaminase 6 (TG6), in a Taiwanese cohort.

Methods: Mutations in TGM6 were ascertained in 109 unrelated probands of Chinese descent with molecularly unassigned SCA from 512 pedigrees, in whom mutations responsible for 15 other ataxia syndromes had been excluded. The clinical features of all patients with a TGM6 mutation were systematically analyzed.

Comparison of activities of daily living impairments in Parkinson's disease patients as defined by the Pill Questionnaire and assessments by neurologists.

Objectives: To compare the clinical judgment of experienced neurologists after interviewing Parkinson's disease (PD) patients and their caregivers with the use of the Pill Questionnaire to determine the presence of impairments on activities of daily living (ADL).

Background: ADL impairment is a criterion for the diagnosis of dementia associated with PD. The Pill Questionnaire has been recommended as a screening tool to assess ADL impairment in PD patients, but its usefulness and validity have not been fully investigated.

Generalized chorea in the syndrome of acute bilateral basal ganglia lesions in patients with diabetic uremia.

The syndrome of acute bilateral basal ganglia (BG) lesions in patients with diabetic uremia normally affects Asian patients and usually presents with parkinsonian symptoms. We report two patients with this syndrome suffering from acute generalized choreic movements. The brain MRI of both patients revealed a cytotoxic-type of edema in the bilateral BG during the acute phase of the syndrome.

5,10-methylenetetrahydrofolate reductase C677T gene polymorphism can influence age at onset of Parkinson's disease.

A case-control study was designed to investigate a possible genetic susceptibility of the MTHFR C677T polymorphism and assess whether the genetic polymorphism could be a predictor of levodopa-induced adverse effects in patients with Parkinson's disease (PD) of Chinese descent living in Taiwan. There were 94 sporadic PD patients with levodopa therapy at least for five years and 146 control subjects, matched by sex and gender, in this study. Results revealed that there were no differences of the allelic and genotypic frequencies of the MTHFR C677T polymorphism between PD patients and the controls.

A CD14 monocyte receptor polymorphism and genetic susceptibility to Parkinson's disease for females.

Recent studies suggest that inflammation may play an important role in the pathogenesis of Parkinson's disease (PD). Because the C(-260) --> T polymorphism in the promoter of the CD14 monocyte receptor gene (pCD14) could affect the predisposition to the inflammatory response, we conducted a case-control study to investigate a possible genetic susceptibility of the pCD14 polymorphism in patients with PD. This study included 200 sporadic PD patients and 200 controls, matched by sex and case-control pairs for age at onset in the case.

Homozygous deletion genotype of angiotensin converting enzyme confers protection against migraine in man.

Studies have shown that migraine may have a major genetic component. Meanwhile, angiotensin converting enzyme (ACE) gene has been implicated as a genetic factor associated with migraine. We designed a case-control study to investigate the association between ACE and migraine in 240 migraine patients and 200 healthy controls, matched by age and sex.

The homozygote AA genotype of the alpha1-antichymotrypsin gene may confer protection against early-onset Parkinson's disease in women.

There has been increasing evidence suggesting that inflammatory response maybe involved in the pathogenesis of Parkinson's disease (PD). Alpha1-antichymotrypsin gene (ACT) has been regarded as a susceptibility factor for PD in the past, but the evidence remains controversial. This case-control study was designed to investigate the association of alpha1-antichymotrypsin gene (ACT) polymorphism between 210 Taiwanese patients with clinical definite sporadic PD and 260 controls, matched by age and sex.

Improvement of generalised dystonia by olanzapine treatment.

This is the first report on generalised dystonia beneficially treated by olanzapine. A 63-year-old Taiwanese man with intractable general dystonia was treated with olanzapine starting at a dose of 2.5 mg/day to the maximal dose of 15 mg/day.

The homozygote 10-copy genotype of variable number tandem repeat dopamine transporter gene may confer protection against Parkinson's disease for male, but not to female patients.

We investigated the role of variable number tandem repeat (VNTR) polymorphism of the dopamine transporter gene (DAT) in the pathogenesis of Parkinson's disease (PD) in Taiwanese. A case-control study was carried out to examine the association of the VNTR polymorphism within the DAT between 193 sporadic PD patients and 254 controls, matched by age and sex. Six alleles of VNTR polymorphism in the DAT, consisting of 6, 7, 8, 9, 10 and 11 copies of the 40-base-pair (bp) repeat sequence, were detected in the study.

Association between genetic polymorphism of angiotensin-converting enzyme gene and Parkinson's disease.

This study was designed to investigate the hypothesis that deletion/insertion (D/I) polymorphism of the angiotensin-converting enzyme (ACE) gene may contribute to increased risk of Parkinson's disease (PD). A case-control study was carried out to examine the association between the ACE genotype and the allele frequency in 127 sporadic PD patients compared with 198 healthy controls. The frequency of the homozygote DD genotype of the ACE gene was significantly increased in patients with PD than in the controls (chi(2)=6.

Presentation of striatal hyperintensity on T1-weighted MRI in patients with hemiballism-hemichorea caused by non-ketotic hyperglycemia: report of seven new cases and a review of literature.

Recent studies have shown unique clinicoradiologic characteristics in patients with hemiballism-hemichorea (HB-HC) caused by non-ketotic hyperglycemia; however, there is still a limited number of patients being reported. We report 7 patients (3 males and 4 females) with this type of dyskinesia, whose ages ranged from 60 to 84 years. Brain CT of these patients showed hyperdensity in the contralateral striatum, corresponding with MRI studies that showed an increased signal intensity on T1-weighted images and a decreased signal on T2-weighted images.

Treatment of intractable generalized dystonia by bilateral posteroventral pallidotomy--one-year results.

Background: Recent study has revealed that bilateral posteroventral pallidotomy (PVP) significantly improve dystonic movements and improve motor function of those patients with generalized dystonia (GD). However, there is only a limited number of patients who have been reported so far.

Methods: This study was conducted to evaluate the clinical efficacy of surgical treatment with bilateral PVP on patients with intractable GD.

Ipsilateral putamen hyperintensity on T1-weighted MRI in non-ketotic hyperglycemia with hemiballism-hemichorea: a case report.

Movement disorders are often caused by lesions in the contralateral basal ganglia. This report presents an elderly woman with hemiballism-hemichorea induced by non-ketotic hyperglycemia, whose brain CT revealed a hyperdense lesion over the ipsilateral putamen. Concomitantly, MR image revealed a putaminal hyperintensity on T1-weighted image and hypointensity on T2-weighted image.

Lack of association between angiotensin I-converting enzyme gene deletion polymorphism and cerebrovascular disease in Taiwanese.

Background And Purpose: Angiotensin I-converting enzyme (ACE) gene deletion polymorphism (D) has recently been suggested as a significant risk factor for cerebrovascular disease in studies involving Japanese and white populations. We investigated the role of ACE D polymorphism in the pathogenesis of cerebrovascular disease in Taiwanese.

Methods: To examine the association of ACE genotype and allele frequency with cerebrovascular disease, we conducted a study of 306 stroke patients and 300 control subjects matched by age and sex.

Lack of association between deletion polymorphism of the ACE gene and ischemic vascular diseases in a Chinese population in Taiwan.

Background: The association between deletion/insertion polymorphism of the angiotensin I-converting enzyme (ACE) gene and ischemic vascular diseases (IVDs) is still unclear. This study was designed to evaluate the role of ACE gene polymorphism in the pathogenesis of IVDs in a Chinese population living in Taiwan.

Methods: A case-control study was carried out to examine the association of the ACE gene genotype and the allele frequency in 400 IVD patients, including 214 patients with ischemic cerebrovascular disease (ICVD) and 186 patients with ischemic heart disease (IHD), compared with 200 control individuals.