Results 11 to 20 of about 19,940 (185)

Pseudodominance in Friedreich Ataxia—Impact of High Prevalence of Carriers and Intrafamilial Clinical Variation

Movement Disorders Clinical Practice, Volume 10, Issue 4, Page 670-676, April 2023., 2023
ABSTRACT Background Friedreich ataxia (FA) is the most common form of autosomal recessive (AR) ataxia. It is a rare disease, but carriers are frequent (1/100). Pseudodominance in FA has seldomly been reported; it may pose additional challenges for diagnosis. Cases A family with two consecutive generations affected by FA is described.
Maria João Malaquias, Jorge Oliveira, Manuela Santos, Ana Filipa Brandão, Ana Sardoeira, Jorge Sequeiros, José Barros, Joana Damásio   +7 more
wiley   +1 more source

Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers

Movement Disorders, Volume 38, Issue 4, Page 604-615, April 2023., 2023
Abstract Background Epidemiological studies that examined the association between Parkinson's disease (PD) and cancers led to inconsistent results, but they face a number of methodological difficulties. Objective We used results from genome‐wide association studies (GWASs) to study the genetic correlation between PD and different cancers to identify ...
Pierre‐Emmanuel Sugier, Elise A. Lucotte, Cloé Domenighetti, Matthew H. Law, Mark M. Iles, Kevin Brown, Christopher Amos, James D. McKay, Rayjean J. Hung, Mojgan Karimi, Delphine Bacq‐Daian, Anne Boland‐Augé, Robert Olaso, Jean‐françois Deleuze, Fabienne Lesueur, Evgenia Ostroumova, Ausrele Kesminiene, Florent de Vathaire, Pascal Guénel, on behalf of the EPITHYR consortium, Ashwin Ashok Kumar Sreelatha, Claudia Schulte, Sandeep Grover, Patrick May, Dheeraj R. Bobbili, Milena Radivojkov‐Blagojevic, Peter Lichtner, Andrew B. Singleton, Dena G. Hernandez, Connor Edsall, George D. Mellick, Alexander Zimprich, Walter Pirker, Ekaterina Rogaeva, Anthony E. Lang, Sulev Koks, Pille Taba, Suzanne Lesage, Alexis Brice, Jean‐Christophe Corvol, Marie‐Christine Chartier‐Harlin, Eugénie Mutez, Kathrin Brockmann, Angela B. Deutschländer, Georges M. Hadjigeorgiou, Efthimios Dardiotis, Leonidas Stefanis, Athina Maria Simitsi, Enza Maria Valente, Simona Petrucci, Letizia Straniero, Anna Zecchinelli, Gianni Pezzoli, Laura Brighina, Carlo Ferrarese, Grazia Annesi, Andrea Quattrone, Monica Gagliardi, Hirotaka Matsuo, Akiyoshi Nakayama, Nobutaka Hattori, Kenya Nishioka, Sun Ju Chung, Yun Joong Kim, Pierre Kolber, Bart P.C. van de Warrenburg, Bastiaan R. Bloem, Jan Aasly, Mathias Toft, Lasse Pihlstrøm, Leonor Correia Guedes, Joaquim J. Ferreira, Soraya Bardien, Jonathan Carr, Eduardo Tolosa, Mario Ezquerra, Pau Pastor, Monica Diez‐Fairen, Karin Wirdefeldt, Nancy Pedersen, Caroline Ran, Andrea C. Belin, Andreas Puschmann, Emil Ygland Rödström, Carl E. Clarke, Karen E. Morrison, Manuela Tan, Dimitri Krainc, Lena F. Burbulla, Matt J. Farrer, Rejko Kruger, Thomas Gasser, Manu Sharma, on behalf of the Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson's Disease (Courage‐PD) consortium, Thérèse Truong, Alexis Elbaz   +95 more
wiley   +1 more source

Compliance with National and International Guidelines in the Treatment of Nonmotor Symptoms in Late‐Stage Parkinson’s Disease

Parkinson's Disease, Volume 2023, Issue 1, 2023., 2023
Background. National as well as international Parkinson’s disease (PD) treatment guidelines are available to guide clinicians. Previous research has shown that nonmotor symptoms (NMS) are pronounced in late‐stage PD and has suggested that current treatment is insufficient and could be improved. Objectives.
Kristina Rosqvist, Per Odin, Seyed-Mohammad Fereshtehnejad   +2 more
wiley   +1 more source

Mortalidade Hospitalar na Doença de Parkinson: Análise Retrospetiva num Hospital Terciário Português

Acta Médica Portuguesa, 2016
Introdução: A doença de Parkinson está associada a elevada mortalidade hospitalar. O sexo masculino, o início tardio da doença, o grau de incapacidade e a coexistência de deterioração cognitiva ou de depressão têm sido apontados como fatores de risco. A
Joana Martins, Adriana Rua, Nuno Vila Chã   +2 more
doaj   +1 more source

Características clínicas e de neuroimagem molecular de pacientes brasileiros com doença de Parkinson e mutações nos genes PARK2 ou PARK8 [PDF]

, 2009
OBJECTIVE: To describe clinical and neuroimaging (SPECT) characteristics of Brazilian patients with Parkinson's disease (PD) and mutations in PARK2 or PARK8 genes. METHOD: A total of 119 patients meeting clinical criteria for PD were evaluated.
Aguiar, Patricia de Carvalho, Andrade, Luiz Augusto Franco de, Barsottini, Orlando Graziani Povoas, Bressan, Rodrigo Affonseca, Felício, André Carvalho, Ferraz, Henrique B., Godeiro-Junior, Clecio, Hoexter, Marcelo Queiroz, Shih, Ming C.   +8 more
core   +2 more sources

A estimulação vibratória em indivíduos com Doença de Parkinson: revisão de literatura

Revista de Saúde, 2019
A Doença de Parkinson é a segunda maior doença neurodegenerativa e está relacionada a perda de dopamina ocasionada pela degeneração de neurônios dopaminérgicos.
Felipe Valle de Mello, Tassiane Maria Alves Pereira, Adalgiza Mafra Moreno, Agnes Regina dos Santos Guimarães, Carlos Eduardo Cardoso, Marco Orsini, Janaína de Moraes Silva, Victor Hugo Do Vale Bastos   +7 more
doaj   +1 more source

Interferência do tratamento medicamentoso imediato e tardio na doença de Parkinson no gerenciamento da disfagia

Revista CEFAC, 2014
A Doença de Parkinson apresenta grande incidência na população idosa, gerando comprometimento motor progressivo, que afeta várias funções, dentre as quais se destaca a deglutição.
Paula Pinheiro Gerszt, Cintia Rodrigues Baltar, Anderson Evangelista dos Santos, Adriana Leico Oda   +3 more
doaj   +1 more source

Impacto da doença de Parkinson na visão: uma revisão de âmbito

Saúde & Tecnologia, 2023
Introdução – A doença de Parkinson é um transtorno neurodegenerativo progressivo com sintomatologia motora, assim como não motora, ao nível oculo-visual.
Joana Silva, Tânia Pedro, Nádia Fernandes, Ilda Maria Poças   +3 more
doaj   +1 more source

Effects of dual-task interventions on gait performance of patients with parkinson’s disease: a systematic review [PDF]

, 2016
OBJECTIVE: Parkinson’s disease is characterized by motor and non-motor symptoms that impair patients’ gait performance, especially while performing dual/concurrent tasks.
Bento, Teresa, Campos, Carlos, Lattari, Eduardo, Machado, Sérgio, Nardi, Antônio Egidio, Rocha, Nuno Barbosa F., Santos, Luís A. A.   +6 more
core   +3 more sources

Quantitative analysis of swallowing in parkinson´s disease before and after riboflavin [PDF]

, 2014
Purposeto verify the quantitative changes in the swallowing dynamics in patients with Parkinson´s disease submitted to treatment with riboflavin, red meat and poultry removed during one year period.
Chiari, Brasilia Maria, Coimbra, Cicero Galli, Gonçalves, Maria Inês Rebelo, Lederman, Henrique Manoel, Silvério, Carolina Castelli   +4 more
core   +2 more sources