Results 61 to 70 of about 119,702 (338)

Heterozygous variants in AP4S1 are not associated with a neurological phenotype

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Biallelic loss‐of‐function variants in AP4S1 cause childhood‐onset hereditary spastic paraplegia. A recent report suggested that heterozygous AP4S1 variants lead to a syndrome of lower limb spasticity and dysregulation of sphincter function. We critically evaluate this claim against clinical observations in 28 heterozygous carriers of the same
Vicente Quiroz, Umar Zubair, Luca Schierbaum, Amy Tam, Nicole Battaglia, Joshua Rong, Habibah A. P. Agianda, Julian E. Alecu, Kathryn Yang, Darius Ebrahimi‐Fakhari   +9 more
wiley   +1 more source

Neuroprotection of rapamycin in lactacystin-induced neurodegeneration via autophagy enhancement

Neurobiology of Disease, 2008
The ubiquitin–proteasome system (UPS) and the autophagy-lysosomal pathway (ALP) are the two most important cellular mechanisms for protein degradation.
Tianhong Pan, Seiji Kondo, Wen Zhu, Wenjie Xie, Joseph Jankovic, Weidong Le   +5 more
doaj  

Rare coding SNP in DZIP1 gene associated with late-onset sporadic Parkinson's disease [PDF]

arXiv, 2011
We present the first application of the hypothesis-rich mathematical theory to genome-wide association data. The Hamza et al. late-onset sporadic Parkinson's disease genome-wide association study dataset was analyzed. We found a rare, coding, non-synonymous SNP variant in the gene DZIP1 that confers increased susceptibility to Parkinson's disease.
arxiv  

Sleepiness in Parkinson's disease [PDF]

Parkinsonism & Related Disorders, 2009
Excessive daytime sleepiness is a disabling and vital problem in patients with PD. It affects around 33% patients and culminates in sleep attacks (without prodroma) in 1 to 4% of the patients. When monitored, short, narcolepsy-like naps with abnormal intrusion of REM sleep during daytime (and hypnagogic hallucinations as wakeful dreams) are observed in
Arnulf, Isabelle, Leu-Semenescu, Smaranda   +1 more
openaire   +4 more sources

Skin calcium deposits in primary familial brain calcification: A novel potential biomarker

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and its physiopathology is still largely unknown. Skin vascular calcifications have been detected in single PFBC cases, suggesting
Aron Emmi, Giulia Bonato, Aleksandar Tushevski, Cinzia Bertolin, Francesco Cavallieri, Andrea Porzionato, Angelo Antonini, Leonardo Salviati, Miryam Carecchio   +8 more
wiley   +1 more source

Recruitment of patients with de novo Parkinson disease: successful strategies in a randomized exercise clinical trial

Trials, 2018
Introduction Recruitment of sufficient patients with Parkinson disease into clinical trials is a barrier to successful, timely study completion. Non-pharmacologic studies have shown to be even more challenging for recruitment, despite some studies ...
Deborah A. Hall, Charity Moore, Cynthia Comella, the SPARX Study Group   +3 more
doaj   +1 more source

Diagnostic value of the impairment of olfaction in Parkinson's disease. [PDF]

PLoS ONE, 2013
Olfactory impairment is increasingly recognized as an early symptom in the development of Parkinson's disease. Testing olfactory function is a non-invasive method but can be time-consuming which restricts its application in clinical settings and ...
Swaantje Casjens, Angelika Eckert, Dirk Woitalla, Gisa Ellrichmann, Michael Turewicz, Christian Stephan, Martin Eisenacher, Caroline May, Helmut E Meyer, Thomas Brüning, Beate Pesch   +10 more
doaj   +1 more source

Amygdala Neurodegeneration: A Key Driver of Visual Dysfunction in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Visual disability in Parkinson's disease (PD) is not fully explained by retinal neurodegeneration. We aimed to delineate the brain substrate of visual dysfunction in PD and its association with retinal thickness. Methods Forty‐two PD patients and 29 controls underwent 3‐Tesla MRI, retinal spectral‐domain optical coherence tomography,
Asier Erramuzpe, Ane Murueta‐Goyena, Antonio Jimenez‐Marin, Marian Acera, Sara Teijeira‐Portas, Rocío Del Pino, Tamara Fernández‐Valle, Ibai Diez, Unai Sainz‐Lugarezaresti, Naroa Ibarretxe‐Bilbao, Unai Ayala, Maitane Barrenechea, Alberto Cabrera‐Zubizarreta, Jesús Cortés, Juan Carlos Gómez‐Esteban, Iñigo Gabilondo   +15 more
wiley   +1 more source

Depression in Parkinson's disease: clinical-epidemiological correlates and comparison with a controlled group of non-parkinsonian geriatric patients Depressão na doença de Parkinson: análise clínico-epidemiológica e comparação com um grupo de pacientes geriátricos não parkinsonianos

Brazilian Journal of Psychiatry, 2009
OBJECTIVE: To evaluate and compare the frequency and severity of major depression in patients with Parkinson's disease and in individuals older than 60 years without neurological, rheumatological and/or oncological comorbidities.
Beatriz Azevedo dos Anjos Godke Veiga, Vanderci Borges, Sonia Maria César de Azevedo Silva, Fabrício de Oliveira Goulart, Maysa Seabra Cendoroglo, Henrique Ballalai Ferraz   +5 more
doaj   +1 more source

End-to-End Parkinson Disease Diagnosis using Brain MR-Images by 3D-CNN [PDF]

arXiv, 2018
In this work, we use a deep learning framework for simultaneous classification and regression of Parkinson disease diagnosis based on MR-Images and personal information (i.e. age, gender). We intend to facilitate and increase the confidence in Parkinson disease diagnosis through our deep learning framework.
arxiv