Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine

DJ Irwin, NJ Cairns, M Grossman, CT McMillan… - Acta …, 2015 - Springer
Frontotemporal lobar degeneration (FTLD) comprises two main classes of
neurodegenerative diseases characterized by neuronal/glial proteinaceous inclusions (ie …

Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia

JC Van Swieten, P Heutink - The Lancet Neurology, 2008 - thelancet.com
Background Frontotemporal dementia (FTD) is predominantly a presenile disorder that is
characterised by behavioural changes and cognitive impairment, particularly in language …

Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration

NJ Cairns, EH Bigio, IRA Mackenzie, M Neumann… - Acta …, 2007 - Springer
The aim of this study was to improve the neuropathologic recognition and provide criteria for
the pathological diagnosis in the neurodegenerative diseases grouped as frontotemporal …

TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions

NJ Cairns, M Neumann, EH Bigio, IE Holm… - The American journal of …, 2007 - Elsevier
TAR DNA-binding protein 43 (TDP-43) is a major pathological protein of sporadic and
familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions …

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study

I Le Ber, A Camuzat, D Hannequin, F Pasquier… - Brain, 2008 - academic.oup.com
Frontotemporal dementia (FTD), characterized by behavioural and language disorders, is a
clinically, genetically and pathologically heterogeneous group of diseases. The most …

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series

J Beck, JD Rohrer, T Campbell, A Isaacs, KE Morrison… - Brain, 2008 - academic.oup.com
Mutations in the progranulin gene (GRN) are a major cause of frontotemporal lobar
degeneration with ubiquitin-positive, tau-negative inclusions (FTLD-U) but the distinguishing …

The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration

CE Yu, TD Bird, LM Bekris, TJ Montine… - Archives of …, 2010 - jamanetwork.com
Background Mutation in the progranulin gene (GRN) can cause frontotemporal dementia
(FTD). However, it is unclear whether some rare FTD-relatedGRNvariants are pathogenic …

A common biological mechanism in cancer and Alzheimer's disease?

MI Behrens, C Lendon, CM Roe - Current Alzheimer Research, 2009 - ingentaconnect.com
Cancer and Alzheimer's disease (AD) are two common disorders for which the final
pathophysiological mechanism is not yet clearly defined. In a prospective longitudinal study …

Absence of Pittsburgh compound B detection of cerebral amyloid β in a patient with clinical, cognitive, and cerebrospinal fluid markers of Alzheimer disease: a case …

NJ Cairns, MD Ikonomovic, T Benzinger… - Archives of …, 2009 - jamanetwork.com
Background To date, there have been no reports of individuals who have been
characterized longitudinally using clinical and cognitive measures and who transitioned …

Progressive nonfluent aphasia and its characteristic motor speech deficits

JM Ogar, NF Dronkers, SM Brambati… - Alzheimer Disease & …, 2007 - journals.lww.com
Progressive nonfluent aphasia (PNFA) is a clinical syndrome characterized by motor speech
impairment and agrammatism, with relative sparing of single word comprehension and …