14 results match your criteria: "The Dublin Neurological Institute at the Mater Misericordiae University Hospital[Affiliation]"
Genotype-phenotype correlation in PRKN-associated Parkinson's disease.
NPJ Parkinsons Dis
March 2024
Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.
Bi-allelic pathogenic variants in PRKN are the most common cause of autosomal recessive Parkinson's disease (PD). 647 patients with PRKN-PD were included in this international study. The pathogenic variants present were characterised and investigated for their effect on phenotype.
View Article and Find Full Text PDFInternational Genetic Testing and Counseling Practices for Parkinson's Disease.
Mov Disord
August 2023
Ken and Ruth Davee Department of Neurology, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.
Background: There is growing clinical and research utilization of genetic testing in Parkinson's disease (PD), including direct-to-consumer testing.
Objectives: The aim is to determine the international landscape of genetic testing in PD to inform future worldwide recommendations.
Methods: A web-based survey assessing current practices, concerns, and barriers to genetic testing and counseling was administered to the International Parkinson and Movement Disorders Society membership.
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.
Mov Disord
February 2023
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Article Synopsis
- - The study aimed to create a global cohort of individuals with Parkinson's disease (PD) linked to specific genetic variants, aiming to improve the understanding and treatment of monogenic PD.
- - Researchers collected data from 3,888 participants across 92 centers in 42 countries, including 3,185 diagnosed with PD and 703 unaffected individuals, which highlighted a total of 269 distinct pathogenic variants.
- - This initiative not only established the largest international genetic PD cohort but also provided quality-controlled clinical and genetic data to foster further research collaboration.
Background: Variants in PARKIN, PINK1, and DJ1 are associated with early-onset Parkinson' disease (EOPD, age-at-onset < 45). We previously reported a single PINK1 and a single DJ1 heterozygous variant carrier.
Purpose: We aimed to expand upon our previous EOPD studies and investigate for any genotype-phenotype correlations in Irish PD.
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Brain
December 2020
Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
Article Synopsis
- Heterozygous mutations in the KMT2B gene are linked to early-onset dystonia (DYT28), featuring motor problems that start locally and can spread throughout the body, particularly affecting the face and neck.
- A study of 53 patients with KMT2B mutations revealed new disease presentations and identified various health issues, such as growth retardation and endocrine disorders, as well as a higher impact on patients with more severe genetic variants.
- Patients who underwent deep brain stimulation for severe dystonia showed significant improvement in motor function and disability over time, with more than half experiencing over 30% improvement at the one-year mark.
Multiple studies implicate heterozygous mutations as a major genetic risk factor for Parkinson's disease (PD); however, the frequency of mutations has never been examined in PD patients from the Irish population. We prospectively recruited 314 unrelated Irish PD patients (UK Brain Bank Criteria) and 96 Irish healthy controls (without any signs or family history of parkinsonism) attending. The Dublin Neurological Institute (DNI).
View Article and Find Full Text PDFComplexity based measures of postural stability provide novel evidence of functional decline in fragile X premutation carriers.
J Neuroeng Rehabil
July 2019
Trinity Centre for Biomedical Engineering, Trinity College, The University of Dublin, 152 - 160 Pearse St, Dublin 2, Ireland.
Background: Fragile X Associated Tremor/Ataxia Syndrome (FXTAS) is a neurodegenerative movement disorder characterized by tremor, ataxic gait, and balance issues resulting from a premutation of the Fragile X Mental Retardation 1 (FMR1) gene. No biomarkers have yet been identified to allow early diagnosis of FXTAS, however, recent studies have reported subtle issues in the stability of younger premutation carriers, before disease onset. This study investigates the efficacy of multiscale entropy analysis (MSE) in detecting early changes in the motor system of premutation carriers without FXTAS.
View Article and Find Full Text PDFThe Movement disorder associated with NMDAR antibody-encephalitis is complex and characteristic: an expert video-rating study.
J Neurol Neurosurg Psychiatry
June 2019
Oxford Autoimmune Neurology Group, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK
The benefits of a Neurogenetics clinic in an adult Academic Teaching Hospital.
Ir J Med Sci
November 2018
Department of Neurology, The Dublin Neurological Institute at the Mater Misericordiae University Hospital, 57 Eccles Street, Dublin, Ireland.
Genetics is the backbone of Neurology, where a number of disorders have a genetic aetiology and are complex, requiring a dedicated Neurogenetics clinic. Genetics in the Republic of Ireland is under-resourced, with the lowest number of consultants per million of population in Europe. In November 2014, we established the monthly adult Neurogenetics clinic in Ireland, staffed by 2 consultants and 2 registrars from each speciality.
View Article and Find Full Text PDFEvaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study.
Neurobiol Aging
January 2017
Centre for Genetic Epidemiology, Institute for Clinical Epidemiology and Applied Biometry, University of Tuebingen, Tuebingen, Germany; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Science Research, University of Tuebingen, Tuebingen, Germany. Electronic address:
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.
View Article and Find Full Text PDFMitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders.
Neurology
December 2015
From the Department of Neuroscience (K.O., S.K., F.C.F., M.A., C.L., O.L.-B., E.L.M.-L., A.I.S.-O., R.L.W., W.S., D.W.D., O.A.R.), the Division of Biomedical Statistics and Informatics (M.G.H.), and the Department of Neurology (A.J.S., R.J.U., N.R.G.-R., Z.K.W.), Mayo Clinic, Jacksonville, FL; the Department of Neurology (K.O., M.A., K.N., M.F., N.H.), Juntendo University School of Medicine, Tokyo, Japan; the Dublin Neurological Institute at the Mater Misericordiae University Hospital (A.M., T.L.), Conway, and Institute of Biomolecular & Biomedical Research, University College Dublin, Ireland; the Department of Neurology (J.S., G.O., M.R.), Medical University of Silesia, Katowice; the Department of Neurology (A.K.-W.), Jagiellonian University, Krakow; the Department of Neurodegenerative Disorders (M.B.), Medical Research Centre, Polish Academy of Sciences, Warsaw; the Department of Neurology (K.C.), Central Hospital of the Ministry of Interior and Administration, Warsaw, Poland; the Departments of Clinical Sciences and Neurology (A.P.), Lund University; the Department of Neurology (A.P.), Skåne University Hospital, Sweden; the Research Institute for Diseases of Old Age, Graduate School of Medicine (M.F., N.H.), Juntendo University, Tokyo, Japan; the Departments of Pathology and Laboratory Medicine (J.E.P.) and Neurology (R.C.P., B.F.B.), Mayo Clinic, Rochester, MN; the School of Medicine and Medical Science (O.A.R.), University College Dublin, Ireland; and Mayo Graduate School (O.A.R.), Neurobiology of Disease, Jacksonville, FL.
Objective: To assess the role of CHCHD2 variants in patients with Parkinson disease (PD) and Lewy body disease (LBD) in Caucasian populations.
Methods: All exons of the CHCHD2 gene were sequenced in a US Caucasian patient-control series (878 PD, 610 LBD, and 717 controls). Subsequently, exons 1 and 2 were sequenced in an Irish series (355 PD and 365 controls) and a Polish series (394 PD and 350 controls).
Closing the tau loop: the missing tau mutation.
Brain
October 2015
1 The Dublin Neurological Institute at the Mater Misericordiae University Hospital, 57 Eccles Street, Dublin 7, Ireland
Frontotemporal lobar degeneration comprises a group of disorders characterized by behavioural, executive, language impairment and sometimes features of parkinsonism and motor neuron disease. In 1994 we described an Irish-American family with frontotemporal dementia linked to chromosome 17 associated with extensive tau pathology. We named this disinhibition-dementia-parkinsonism-amyotrophy complex.
View Article and Find Full Text PDFDon'T lose sleep over neurodegeneration-it helps clear amyloid Beta.
Front Neurol
January 2014
Department of Neurology, The Dublin Neurological Institute at The Mater Misericordiae University Hospital, Dublin , Ireland.