Citations 22

Pick's disease caused by a novel MAPT mutation (P1.216)

Neurology | December 6, 2023 | Volume: 84 | Issue: 14_supplement | Pages: No page available

10.1212/wnl.84.14_supplement.p1.216

Primary lateral sclerosis presenting as atypical parkinsonism: a clinical challenge (P16-11.004)

Neurology | December 6, 2023 | Volume: 98 | Issue: 18_supplement | Pages: No page available

10.1212/wnl.98.18_supplement.1888

Global Survey on Telemedicine Utilization for Movement Disorders During the COVID‐19 Pandemic

Movement Disorders | August 24, 2020 | Volume: 35 | Issue: 10 | Pages: 1701-1711

10.1002/mds.28284 | PMID 32833273

ABSTRACTBackgroundThe COVID‐19 pandemic restricted usual healthcare management for movement‐disorders patients, with a consequent upsurge in telemedicine to bridge the gap.ObjectiveTo assess global telemedicine usage in the context of the pandemic.MethodsThe Movement Disorder Society (MDS) Telemedicine Study Group surveyed telemedicine experts from 40 countries across all continents in March–April 2020. Four domains of telemedicine were assessed: legal regulations, reimbursement, clinical use, and barriers; comparing emerging responses to the pandemic versus the baseline scenario.ResultsAll forms of telemedicine for movement disorders increased globally, irrespective of country income categorization, as an immediate response to the pandemic. This was aided by widespread availability of technology and updated government regulations. However, privacy concerns, lack of reimbursement, limited access, and lack of telemedicine training were barriers highlighted worldwide.ConclusionsQuestions remain about the longevity and extent of changes in regulations and reimbursement regarding telemedicine in the aftermath of the pandemic. © 2020 International Parkinson and Movement Disorder Society
Association study between multiple system atrophy and TREM2 p.R47H

Neurology Genetics | August 2, 2018 | Volume: 4 | Issue: 4 | Pages: No page available

10.1212/nxg.0000000000000257 | PMID 30109269

Multiple system atrophy and apolipoprotein E

Movement Disorders | February 14, 2018 | Volume: 33 | Issue: 4 | Pages: 647-650

10.1002/mds.27297 | PMID 29442376

ABSTRACTBackground: Dysregulation of the specialized lipid metabolism involved in myelin synthesis and maintenance by oligodendrocytes has been associated with the unique neuropathology of MSA. We hypothesized that apolipoprotein E, which is associated with neurodegeneration, may also play a role in the pathogenesis of MSA.Objective: This study evaluated genetic associations of Apolipoprotein E alleles with risk of MSA and α‐synuclein pathology, and also examined whether apolipoprotein E isoforms differentially affect α‐synuclein uptake in a oligodendrocyte cell.Methods: One hundred sixty‐eight pathologically confirmed MSA patients, 89 clinically diagnosed MSA patients, and 1,277 control subjects were genotyped for Apolipoprotein E. Human oligodendrocyte cell lines were incubated with α‐synuclein and recombinant human apolipoprotein E, with internalized α‐synuclein imaged by confocal microscopy and cells analyzed by flow cytometry.Results: No significant association with risk of MSA or was observed for either Apolipoprotein E ɛ2 or ɛ4. α‐Synuclein burden was also not associated with Apolipoprotein E alleles in the pathologically confirmed patients. Interestingly, in our cell assays, apolipoprotein E ɛ4 significantly reduced α‐synuclein uptake in the oligodendrocytic cell line.Conclusions: Despite differential effects of apolipoprotein E isoforms on α‐synuclein uptake in a human oligodendrocytic cell, we did not observe a significant association at the Apolipoprotein E locus with risk of MSA or α‐synuclein pathology. © 2018 International Parkinson and Movement Disorder Society
Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies

Neurology | September 3, 2015 | Volume: 85 | Issue: 19 | Pages: 1680-1686

10.1212/wnl.0000000000001946 | PMID 26333800

Clinical Correlations With Lewy Body Pathology inLRRK2-Related Parkinson Disease

JAMA Neurology | November 17, 2014 | Volume: 72 | Issue: 1 | Pages: 100

10.1001/jamaneurol.2014.2704 | PMID 25401511

LRRK2 exonic variants and risk of multiple system atrophy

Neurology | November 7, 2014 | Volume: 83 | Issue: 24 | Pages: 2256-2261

10.1212/wnl.0000000000001078 | PMID 25378673

DCTN1Mutations and Progressive Supranuclear Palsy–Like Phenotype

JAMA Neurology | May 12, 2014 | Volume: 71 | Issue: 5 | Pages: 655

10.1001/jamaneurol.2014.227 | PMID 24818686

Similarities between familial and sporadic autopsy-proven progressive supranuclear palsy

Neurology | May 2, 2013 | Volume: 80 | Issue: 22 | Pages: 2076-2078

10.1212/wnl.0b013e318294b2eb | PMID 23635960