Results 71 to 80 of about 151,540 (363)

Muscle biopsy: A boon for diagnosis of mitochondrial parkinsonism in developing countries

Annals of Indian Academy of Neurology, 2019
Mitochondrial dysfunction plays an important role in the pathogenesis of Parkinson's disease. Primary genetic abnormalities in the mitochondrial DNA or nuclear DNA can cause parkinsonism.
Ritu Shree, Sahil Mehta, Manoj K Goyal, Balan L Gaspar, Vivek Lal   +4 more
doaj   +1 more source

PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism. [PDF]

, 2006
We analyzed the PINK1 gene in 58 patients with early-onset Parkinsonism and detected the homozygous mutation W437X in 1 patient. The clinical phenotype was characterized by early onset (22 years of age), good re- sponse to levodopa, early fluctuations ...
CRISCUOLO C, DALLAPICCOLA B, DE MICHELE, GIUSEPPE, DE ROSA, ANNA, FILLA, ALESSANDRO, MANCINI P, MARONGIU R, SALVATORE, ELENA, VALENTE EM, VARRONE A, VOLPE G   +10 more
core  

Utility of transcranial sonography in the diagnosis of drug-induced parkinsonism: a prospective study. [PDF]

, 2013
Background and purpose: Drug-induced parkinsonism usually resolves after discontinuation of the causative agent. However, it persists in some patients, who actually have subclinical neurodegenerative parkinsonism.
Barrero Hernández, Francisco Javier
core   +1 more source

Parkinson Matters

Journal of Parkinson’s Disease, 2018
Recent epidemiological observations have drawn attention to the rapid rise in the burden caused by Parkinson’s disease over the past years, emphasizing that Parkinson’s disease is a matter of serious concern for our future generations. A recent report by Public Health England corroborates this message, by providing new insight on trends in deaths ...
Darweesh, S.K.L., Raphael, Karen G., Brundin, P., Matthews, H., Wyse, Richard K., Chen, Honglei, Bloem, B.R.   +6 more
openaire   +5 more sources

Relationship of cognitive decline with glucocerebrosidase activity and amyloid‐beta 42 in DLB and PD

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Dementia with Lewy bodies (DLB) and Parkinson's disease (PD) share clinical, pathological, and genetic risk factors, including GBA1 and APOEε4 mutations. Biomarkers associated with the pathways of these mutations, such as glucocerebrosidase enzyme (GCase) activity and amyloid‐beta 42 (Aβ42) levels, may hold potential as predictive ...
Maria Camila Gonzalez, Linn Oftedal, Johannes Lange, Diego Alejandro Tovar‐Rios, Ole‐Bjørn Tysnes, Claire Paquet, Marta Marquié, Mercè Boada, Daniel Alcolea, Konrad Rejdak, Ewa Papuc, Jakub Hort, Cristian Falup‐Pecurariu, Dag Aarsland, Guido Alves, Jodi Maple‐Grødem   +15 more
wiley   +1 more source

血管性帕金森综合征鉴别诊断的影像学研究进展 Advances of Imaging in the Differential Diagnosis of Vascular Parkinsonism

Zhongguo cuzhong zazhi, 2023
血管性帕金森综合征（vascular parkinsonism，VP）是临床上常见的继发性帕金森综合征，目前VP临床诊断和鉴别诊断的准确率较低，影响其临床治疗和预后。在临床实践中，影像学常用于VP的诊断。近年来多模态MRI和分子影像成像及分析技术等影像学技术的进展为提高VP的诊断和鉴别诊断准确率提供了客观手段。本文就前沿影像学技术在VP与原发性帕金森病以及其他非典型帕金森综合征鉴别诊断领域的研究进展进行综述，以期为VP的诊断和鉴别诊断提供新的思路。 Abstract: Vascular ...
张冬玲，吴涛
doaj   +1 more source

Rates of lobar atrophy in asymptomatic MAPT mutation carriers. [PDF]

, 2019
IntroductionThe aim of this study was to investigate the rates of lobar atrophy in the asymptomatic microtubule-associated protein tau (MAPT) mutation carriers.MethodsMAPT mutation carriers (n = 14; 10 asymptomatic, 4 converters from ...
Boeve, Bradley F, Boxer, Adam L, Brushaber, Danielle, Chen, Qin, Dheel, Christina, Fields, Julie, Forsberg, Leah, Gavrilova, Ralitza, Gearhart, Debra, Graff-Radford, Jonathan, Graff-Radford, Neill R, Jack, Clifford R, Jones, David T, Kantarci, Kejal, Knopman, David S, Kremers, Walter K, Lapid, Maria, LEFFTDS Consortium, Lesnick, Timothy G, Rademakers, Rosa, Rosen, Howie, Senjem, Matthew, Syrjanen, Jeremy, Tosakulwong, Nirubol, Wszolek, Zbigniew K   +24 more
core   +2 more sources

Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng, Chenxin Ying, Nan Jin, Jinghong Ma, Xinhua Wan, Xunhua Li, Wei Luo   +6 more
wiley   +1 more source

Parkinsonism in the psychiatric setting: an update on clinical differentiation and management

BMJ Neurology Open, 2020
Parkinsonism is seen frequently in patients with psychiatric conditions. Drug-induced parkinsonism (DIP) is the second most common cause of parkinsonism in the general population after Parkinson’s disease (PD) but a range of rarer aetiologies, some of ...
Alice Powell, Lara Gallur, Leslie Koopowitz, Michael William Hayes   +3 more
doaj   +1 more source

Early Detection of Parkinson's Disease using Motor Symptoms and Machine Learning [PDF]

arXiv, 2023
Parkinson's disease (PD) has been found to affect 1 out of every 1000 people, being more inclined towards the population above 60 years. Leveraging wearable-systems to find accurate biomarkers for diagnosis has become the need of the hour, especially for a neurodegenerative condition like Parkinson's.
arxiv