Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation

MI Behrens, O Mukherjee, P Tu, RM Liscic… - Alzheimer Disease & …, 2007 - journals.lww.com
Hereditary dysphasic disinhibition dementia (HDDD) describes a familial disorder
characterized by personality changes, and language and memory deficits. The …

HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin‐positive, tau‐negative inclusions caused by a missense mutation in the signal peptide of …

O Mukherjee, P Pastor, NJ Cairns… - Annals of Neurology …, 2006 - Wiley Online Library
Objective Familial autosomal dominant frontotemporal dementia with ubiquitin‐positive, tau‐
negative inclusions in the brain linked to 17q21‐22 recently has been reported to carry null …

The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene

IRA Mackenzie, M Baker, S Pickering-Brown… - Brain, 2006 - academic.oup.com
The most common pathology in frontotemporal dementia (FTD) is tau-negative, ubiquitin-
immunoreactive (ub-ir) neuronal inclusions (FTLD-U). Recently, we identified mutations in …

Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia

JS Snowden, SM Pickering-Brown, IR Mackenzie… - Brain, 2006 - academic.oup.com
Frontotemporal lobar degeneration (FTLD) refers to a focal, non-Alzheimer form of cerebral
degeneration that encompasses the distinct clinical syndromes of frontotemporal dementia …

Alzheimer disease–like phenotype associated with the c. 154delA mutation in progranulin

BJ Kelley, W Haidar, BF Boeve, M Baker… - Archives of …, 2010 - jamanetwork.com
Objective To characterize a kindred with a familial neurodegenerative disorder associated
with a mutation in progranulin (PGRN), with emphasis on the unique clinical features in this …

Frontotemporal lobar degeneration with ubiquitin-positive inclusions: a molecular genetic update

J Van Der Zee, I Gijselinck, D Pirici… - Neurodegenerative …, 2007 - karger.com
Frontotemporal lobar degeneration (FTLD) is a clinically, pathologically and genetically
highly complex disorder. In the last few years enormous progress has been made in …

Neuropathologic Features of Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions With Progranulin Gene (PGRN) Mutations

KA Josephs, Z Ahmed, O Katsuse… - … of Neuropathology & …, 2007 - academic.oup.com
Frontotemporal lobar degeneration is heterogeneous; cases with tau-and synuclein-
negative, ubiquitin-positive neuronal inclusions are the most common, and some have …

Frontotemporal lobar degeneration with ubiquitinated tau‐negative inclusions and additional α‐synuclein pathology but also unusual cerebellar ubiquitinated p62 …

A King, S Al‐Sarraj, C Shaw - Neuropathology, 2009 - Wiley Online Library
Mutations in the progranulin (PGRN) gene on chromosome 17 have been shown to be
responsible for one non‐tauopathy subtype of familial frontotemporal lobar degeneration …

Frontotemporal dementia and parkinsonism associated with the IVS1+ 1G→ A mutation in progranulin: a clinicopathologic study

BF Boeve, M Baker, DW Dickson, JE Parisi, C Giannini… - Brain, 2006 - academic.oup.com
We previously reported a kindred with three cases of dementia, in which the proband
exhibited features typical of frontotemporal dementia and parkinsonism (FTDP). An arginine …

Intra-familial clinical heterogeneity due to FTLD-U with TDP-43 proteinopathy caused by a novel deletion in progranulin gene (PGRN)

T Gabryelewicz, M Masellis… - Journal of …, 2010 - content.iospress.com
Frontotemporal dementia (FTD) is one of the commonest forms of early-onset dementia,
accounting for up to 20% of all dementia patients. Recently, it has been shown that …