Results 131 to 140 of about 427,317 (231)

Calcium modulating ligand confers risk for Parkinson's disease and impacts lysosomes

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Several genetic loci known to confer risk for Parkinson's disease (PD) function in lysosomal pathways. We systematically screened common variants linked to PD risk by genome‐wide association studies (GWAS) for impact on cerebrospinal fluid (CSF) proteins reflecting lysosomal function.
Hanwen Zhang, Daniel Kargilis, Thomas Tropea, John Robinson, Junchao Shen, Eliza M. Brody, Ann Brinkmalm, Simon Sjödin, Adama J. Berndt, Marc Carceles‐Cordon, EunRan Suh, Vivianna M. Van Deerlin, Kaj Blennow, Daniel Weintraub, Edward B. Lee, Henrik Zetterberg, Alice S. Chen‐Plotkin   +16 more
wiley   +1 more source

Genetic Diversity of the Flavohemoprotein Gene of Giardia lamblia: Evidence for High Allelic Heterozygosity and Copy Number Variation

Infection and Drug Resistance, 2020
Christina S Saghaug,1,2 Christian Klotz,3 Juha P Kallio,4 Toni Aebischer,3 Nina Langeland,1,2,5 Kurt Hanevik1 1Department of Clinical Science, University of Bergen, Bergen, Norway; 2Norwegian National Advisory Unit on Tropical Infectious Diseases ...
Saghaug CS, Klotz C, Kallio JP, Aebischer T, Langeland N, Hanevik K   +5 more
doaj  

Epigenome‐wide association study, meta‐analysis, and multiscore profiling of whole blood in Parkinson's disease

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objectives An increasing body of evidence indicates altered DNA methylation in Parkinson's disease, yet the reproducibility and utility of such methylation changes are largely unexplored. We aimed to further elucidate the role of dysregulated DNA methylation in Parkinson's disease and to evaluate the biomarker potential of methylation‐based ...
Ingeborg Haugesag Lie, Manuela M. X. Tan, Maren Stolp Andersen, Mathias Toft, Lasse Pihlstrøm   +4 more
wiley   +1 more source

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

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

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

Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The hereditary spastic‐ataxia spectrum disorders are a group of disabling neurological diseases. The traditional genetic testing pathway is complex, multistep and leaves many cases unsolved. We aim to streamline and improve this process using long‐read sequencing. Methods We developed a targeted long‐read sequencing strategy with the
Laura Ivete Rudaks, Igor Stevanovski, Dennis Yeow, Andre L. M. Reis, Sanjog R. Chintalaphani, Pak Leng Cheong, Hasindu Gamaarachchi, Lisa Worgan, Kate Ahmad, Michael Hayes, Andrew Hannaford, Samuel Kim, Victor S. C. Fung, Gabor M. Halmagyi, Andrew Martin, David Manser, Michel Tchan, Karl Ng, Marina L. Kennerson, Ira W. Deveson, Kishore Raj Kumar   +20 more
wiley   +1 more source

Associations of Cerebrospinal Fluid Orexin‐A, Alzheimer Disease Biomarkers, and Cognitive Performance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACTObjectiveCerebrospinal fluid (CSF) orexin‐A has been suggested to be a biomarker of Alzheimer disease (AD). In both cognitively unimpaired healthy older adults and individuals with symptomatic AD, CSF orexin‐A is positively associated with CSF Aβ42, p‐tau181, and total tau (t‐tau) concentrations.
Ruijin Lu, Krish Shah, Cristina D. Toedebusch, Ashley Hess, Rachel Richardson, Emmanuel Mignot, Suzanne E. Schindler, Tammie L. S. Benzinger, Shaney Flores, Jason Hassenstab, Chengjie Xiong, John C. Morris, David M. Holtzman, Brendan P. Lucey   +13 more
wiley   +1 more source

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

Early BMI Change, Cognitive Decline, and CSF AD Biomarkers Alterations in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the relationship of early BMI change with subsequent cognitive decline, CSF AD biomarkers alterations, and progression to dementia in patients with PD. Methods Study data were prospectively collected from the PPMI cohort. Weight/height data at enrollment and second‐year clinical visit were utilized to calculate BMI change.
Rui Zhong, Kezhong Zhang
wiley   +1 more source