Citations 762

Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients

Human Molecular Genetics | June 14, 2017 | Volume: 26 | Issue: 17 | Pages: 3421-3431

10.1093/hmg/ddx233 | PMID 28637276

Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers

Neurology Genetics | June 8, 2017 | Volume: 3 | Issue: 4 | Pages: No page available

10.1212/nxg.0000000000000161 | PMID 28660252

Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria

Movement Disorders | May 3, 2017 | Volume: 32 | Issue: 6 | Pages: 853-864

10.1002/mds.26987 | PMID 28467028

ABSTRACT Background : PSP is a neuropathologically defined disease entity. Clinical diagnostic criteria, published in 1996 by the National Institute of Neurological Disorders and Stroke/Society for PSP, have excellent specificity, but their sensitivity is limited for variant PSP syndromes with presentations other than Richardson's syndrome. Objective : We aimed to provide an evidence‐ and consensus‐based revision of the clinical diagnostic criteria for PSP. Methods : We searched the PubMed, Cochrane, Medline, and PSYCInfo databases for articles published in English since 1996, using postmortem diagnosis or highly specific clinical criteria as the diagnostic standard. Second, we generated retrospective standardized clinical data from patients with autopsy‐confirmed PSP and control diseases. On this basis, diagnostic criteria were drafted, optimized in two modified Delphi evaluations, submitted to structured discussions with consensus procedures during a 2‐day meeting, and refined in three further Delphi rounds. Results : Defined clinical, imaging, laboratory, and genetic findings serve as mandatory basic features, mandatory exclusion criteria, or context‐dependent exclusion criteria. We identified four functional domains (ocular motor dysfunction, postural instability, akinesia, and cognitive dysfunction) as clinical predictors of PSP. Within each of these domains, we propose three clinical features that contribute different levels of diagnostic certainty. Specific combinations of these features define the diagnostic criteria, stratified by three degrees of diagnostic certainty (probable PSP, possible PSP, and suggestive of PSP). Clinical clues and imaging findings represent supportive features. Conclusions : Here, we present new criteria aimed to optimize early, sensitive, and specific clinical diagnosis of PSP on the basis of currently available evidence. © 2017 International Parkinson and Movement Disorder Society
Fluorescence and autoradiographic evaluation of tau PET ligand PBB3 to α‐synuclein pathology

Movement Disorders | April 25, 2017 | Volume: 32 | Issue: 6 | Pages: 884-892

10.1002/mds.27013 | PMID 28440890

ABSTRACTBackground: The tau PET ligand 2‐((1E,3E)‐4‐(6‐([11C]methylamino)pyridin‐3‐yl)buta‐1,3‐dienyl)benzo[d]thiazol‐6‐ol ([11C]PBB3) binds to a wide range of tau pathology; however, binding property of PBB3 to non‐tau inclusions remains unknown. To clarify whether [11C]PBB3 binds to α‐synuclein pathology, reactivity of PBB3 was assessed by in vitro fluorescence and autoradiographic labeling of brain sections from α‐synucleinopathies patients.Method: Of 10 pure Lewy body disease and 120 multiple system atrophy (MSA) cases in the Mayo Clinic brain bank, we selected 3 Lewy body disease and 4 MSA cases with a range of α‐synuclein severity based on the quantitative analysis of α‐synuclein burden. PBB3 fluorescence labeling, double or single immunostaining for α‐synuclein and phospho‐tau, Prussian blue staining, and in vitro autoradiography with [11C]PBB3 were performed for these selected samples.Results: PBB3 fluorescence labeled various α‐synuclein lesions including Lewy bodies, Lewy neurites, spheroids, glial cytoplasmic inclusions, and neuronal cytoplasmic inclusions. Meanwhile, autoradiographic labeling with [11C]PBB3 at 10 nM demonstrated no significant binding in Lewy body disease cases. In contrast, significant autoradiographic binding of [11C]PBB3 to the striatopallidal fibers was found in 2 MSA cases, which had high densities of glial cytoplasmic inclusions without tau or iron deposits in this region.Conclusions: Given that the maximum concentration of [11C]PBB3 in human PET scans is approximately 10 nM, the present data imply that α‐synuclein pathology in Lewy body disease is undetectable by [11C]PBB3‐PET, whereas those in a subset of MSA cases with high densities of glial cytoplasmic inclusions could be captured by this radioligand. © 2017 International Parkinson and Movement Disorder Society
Association Between Vascular Pathology and Rate of Cognitive Decline Independent of Alzheimer's Disease Pathology

Journal of the American Geriatrics Society | April 13, 2017 | Volume: 65 | Issue: 8 | Pages: 1836-1841

10.1111/jgs.14903 | PMID 28407205

Objectives To examine the association between vascular pathology and rate of cognitive decline in older adults independent of Alzheimer's disease ( AD ) pathology. Design Prospective cohort study. Setting Community sample. Participants Individuals from the Einstein Aging Study autopsy series (N = 62). Measurements The Blessed Information‐Memory‐Concentration ( BIMC ) test was used to assess global cognitive status. AD pathology was quantified according to Braak stage (<3 vs ≥ 3). Vascular pathology was quantified using a previously reported macrovascular lesion ( MVL ) score. The association between vascular pathology and antemortem rates of cognitive decline adjusted for level of AD pathology was assessed using linear mixed‐effects models. Results Mean age was 81.8 at enrollment and 89.0 at death. Participants with more than two MVL s had faster cognitive decline than those with no MVL s (difference in annual rate of change in BIMC 0.74 points/yr, P = .03). Braak stage was also associated with cognitive decline (difference 0.57 points/yr, P = .03). The difference in rate of cognitive decline between those with more than two MVL s and those free of vascular lesions persisted after adjustment for AD pathology (difference in rate of change in BIMC 0.68 points/yr, P = .04). The effect of vascular pathology on cognitive decline was not significantly different according to AD pathology. Conclusion Vascular brain pathology is associated with rate of cognitive decline after adjusting for level of AD pathology.
Changes in the Expression of Genes Associated with Intraneuronal Amyloid-β and Tau in Alzheimer's Disease

Journal of Alzheimer's Disease | April 5, 2017 | Volume: 19 | Issue: 1 | Pages: 97-109

10.3233/jad-2010-1216 | PMID 20061629

Differential Incorporation of Tau Isoforms in Alzheimer's Disease

Journal of Alzheimer's Disease | April 5, 2017 | Volume: 14 | Issue: 1 | Pages: 1-16

10.3233/jad-2008-14101 | PMID 18525123

Cognitive Performance Correlates with Cortical Isopeptide Immunoreactivity as Well as Alzheimer Type Pathology

Journal of Alzheimer's Disease | April 5, 2017 | Volume: 13 | Issue: 1 | Pages: 53-66

10.3233/jad-2008-13106 | PMID 18334757

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72 -associated amyotrophic lateral sclerosis

Science Translational Medicine | March 29, 2017 | Volume: 9 | Issue: 383 | Pages: No page available

10.1126/scitranslmed.aai7866 | PMID 28356511

Poly(GP) proteins are a promising pharmacodynamic marker for developing and testing therapeutics for treating C9ORF72 -associated amyotrophic lateral sclerosis.
α‐synuclein astrogliopathy: A possible specific feature in α‐synucleinopathy

Neuropathology | February 28, 2017 | Volume: 37 | Issue: 4 | Pages: 379-381

10.1111/neup.12371 | PMID 28244166