Frontotemporal dementia and parkinsonism linked to chromosome 17: A consensus conference

Abstract

We held an international consensus conference on frontotemporal dementia, behavioral disturbances, and parkinsonism linked to chromosome 17 to determine whether these are homogeneous or heterogeneous disorders, to agree on terminology, and to develop strategies for further research. The group identified 13 kindreds with sufficient evidence for linkage, finding in common to all a critical 2 cM between markers D17S791 and D17S800. There was agreement that (1) despite previous descriptions that have emphasized one or another clinical or neuropathological feature, the kindreds share clinical and neuropathological features; (2) until more specific information about the genetic defects becomes available, this disorder is best termed frontotemporal dementia and parkinsonism linked to chromosome 17; and (3) further research will be enhanced by identifying the gene or genes responsible for this disorder, detecting additional cases within known families and, in new families, correlating mutations with phenotypes and more fully delineating the clinical, neuropsychological, and neuropathological characteristics of this disorder.

Frontotemporal Dementia: Implications for Understanding Alzheimer Disease

“…Despite this heterogeneity, disease was linked to the long arm of chromosome 17 (Wilhelmsen et al 1994). The syndrome received its name at a consensus conference during which 13 families were presented (Foster et al 1997). FTDP-17 is divided into a dementia-dominant and a parkinsonism-dominant type.…”

Granulin mutations associated with frontotemporal lobar degeneration and related disorders: An update

“…Positive family history is observed in up to 50% of FTLD patients Rosso et al, 2003] and most families are linked with a region at chromosome 17q21. A group of 17q21-linked FTLD families were initially described as FTD with parkinsonism linked to chromosome 17 [Foster et al, 1997]. In a number of these families, mutations were identified in the microtubule-associated protein tau gene (MAPT; MIM] 157140) [Hutton et al, 1998;Poorkaj et al, 1998].…”

Activation of PAR-1 Kinase and Stimulation of Tau Phosphorylation by Diverse Signals Require the Tumor Suppressor Protein LKB1

“…It becomes abnormally phosphorylated and insoluble and forms neurofibrillary tangles (NFTs) in neurodegenerative tauopathies (Grundke-Iqbal et al, 1986;Greenberg and Davies, 1990;Lee et al, 1991). The association of mutations in tau with frontotemporal dementia with parkinsonism linked to chromosome 17 supports that tau abnormalities can cause neurodegeneration (Foster et al, 1997;Hutton et al, 1998;Poorkaj et al, 1998;Spillantini et al, 1998). In Alzheimer's disease (AD), NFTs often surround amyloid plaques composed of amyloid ␤ (A␤) peptides.…”