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Neuropathologic substrates of Parkinson disease dementia
A study was undertaken to examine the neuropathological substrates of cognitive dysfunction and dementia in Parkinson disease (PD).
Neuropathological and genetic correlates of survival and dementia onset in synucleinopathies: a retrospective analysis
- D. Irwin, M. Grossman, D. Weintraub, H. Hurtig, J. Trojanowski
- The Lancet Neurology
- 31 January 2017
BACKGROUND Great heterogeneity exists in survival and the interval between onset of motor symptoms and dementia symptoms across synucleinopathies. We aimed to identify genetic and pathological… Expand
Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion
- J. Brettschneider, V. Deerlin, +13 authors J. Trojanowski
- Biology, Medicine
- Acta Neuropathologica
- 18 March 2012
C9ORF72-hexanucleotide repeat expansions and ubiquilin-2 (UBQLN2) mutations are recently identified genetic markers in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration… Expand
Parkinson's disease dementia: convergence of α-synuclein, tau and amyloid-β pathologies
Dementia is increasingly being recognized in cases of Parkinson's disease (PD); such cases are termed PD dementia (PDD). The spread of fibrillar α-synuclein (α-syn) pathology from the brainstem to… Expand
Association of cerebrospinal fluid β-amyloid 1-42, T-tau, P-tau181, and α-synuclein levels with clinical features of drug-naive patients with early Parkinson disease.
IMPORTANCE We observed a significant correlation between cerebrospinal fluid (CSF) levels of tau proteins and α-synuclein, but not β-amyloid 1-42 (Aβ1-42), and lower concentration of CSF biomarkers,… Expand
Cognitive decline and reduced survival in C9orf72 expansion frontotemporal degeneration and amyotrophic lateral sclerosis
- D. Irwin, C. McMillan, +19 authors M. Grossman
- Journal of Neurology, Neurosurgery & Psychiatry
- 31 October 2012
Background Significant heterogeneity in clinical features of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) cases with the pathogenic C9orf72 expansion (C9P) have… Expand
C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD
Abstract Hexanucleotide repeat expansions of C9orf72 are the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal degeneration. The mutation is associated with reduced… Expand
Differentiating primary progressive aphasias in a brief sample of connected speech
Objective: A brief speech expression protocol that can be administered and scored without special training would aid in the differential diagnosis of the 3 principal forms of primary progressive… Expand
APOE ε4 increases risk for dementia in pure synucleinopathies.
OBJECTIVE To test for an association between the apolipoprotein E (APOE) ϵ4 allele and dementias with synucleinopathy. DESIGN Genetic case-control association study. SETTING Academic research. … Expand
Acetylated tau, a novel pathological signature in Alzheimer's disease and other tauopathies.
- D. Irwin, T. Cohen, +4 authors J. Trojanowski
- Biology, Medicine
- Brain : a journal of neurology
- 1 March 2012
The microtubule-binding protein, tau, is the major component of neurofibrillary inclusions characteristic of Alzheimer's disease and related neurodegenerative tauopathies. When tau fibrillizes, it… Expand