No evidence of linkage to chromosome 9q21–22 in a Swedish family with frontotemporal dementia and amyotrophic lateral sclerosis

Ostojic, Jovanka; Axelman, Karin; Lannfelt, Lars; Froelich-Fabre, Susanne

doi:10.1016/s0304-3940(03)00126-5

Cited by 12 publications

(5 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Furthermore, in pedigrees with both FTD and ALS segregating, linkage was identified to chromosome 9q21-22 [61]. However, these regions have not been verified by other groups yet [62].…”

Section: Hereditary Ftd Without Tau Mutationsmentioning

confidence: 93%

Clinical and Molecular Aspects of Frontotemporal Dementia

et al. 2004

Self Cite

View full text Add to dashboard Cite

Frontotemporal dementia (FTD) is a neurodegenerative disease and next to Alzheimer’s disease and vascular dementia, the third most common cause of early-onset progressive dementia. FTD leads to neurodegeneration in the frontal and temporal neocortex and usually encompasses both sides of the frontal and anterior temporal lobes. Psychologically, FTD is characterized by personality changes such as lack of insight, inappropriate behaviour, disinhibition, apathy, executive disabilities and a decline in cognitive functions, with large clinical and neuropathological variations among cases. Neuropathological characteristics include gliosis or microvacuolation of cortical nerve cells. Inclusions staining for tau protein and/or ubiquitin are also common findings. Both sporadic and hereditary forms of FTD have been identified and 30–50% of the FTD cases have a familial background. So far, at least three genetic loci for FTD have been identified, at human chromosomes 3, 9 and 17 in familial forms of the disease. A large number of the familial forms have been linked to chromosome 17q21 and referred to as frontotemporal dementia and Parkinsonism linked to chromosome 17. In the majority of these families, pathogenic mutations in the tau gene were identified. However, tau mutations seem to be a rare cause of disease in the general FTD population. Thus, other genes and/or environmental factors are yet to be identified, which will give further clues to this complex and heterogeneous disorder.

show abstract

“…Furthermore, in pedigrees with both FTD and ALS segregating, linkage was identified to chromosome 9q21-22 [61]. However, these regions have not been verified by other groups yet [62].…”

Section: Hereditary Ftd Without Tau Mutationsmentioning

confidence: 93%

Clinical and Molecular Aspects of Frontotemporal Dementia

et al. 2004

Self Cite

View full text Add to dashboard Cite

show abstract

“…The manner in which the identified mutations affect angiogenin function and provoke motor neuron disease is still unknown. Angiogenin, which is expressed within the (Hosler et al, 2000;Ostojic et al, 2003) ALS-FTDP 17q21.1 MAPT (Tau) Microtubuleassociated protein.…”

Section: Angiogenin (Ang)mentioning

confidence: 99%

ALS: A Disease of Motor Neurons and Their Nonneuronal Neighbors

Boillée

Velde

Cleveland

2006

Neuron

1,301

1,091

View full text Add to dashboard Cite

Amyotrophic lateral sclerosis is a late-onset progressive neurodegenerative disease affecting motor neurons. The etiology of most ALS cases remains unknown, but 2% of instances are due to mutations in Cu/Zn superoxide dismutase (SOD1). Since sporadic and familial ALS affects the same neurons with similar pathology, it is hoped that therapies effective in mutant SOD1 models will translate to sporadic ALS. Mutant SOD1 induces non-cell-autonomous motor neuron killing by an unknown gain of toxicity. Selective vulnerability of motor neurons likely arises from a combination of several mechanisms, including protein misfolding, mitochondrial dysfunction, oxidative damage, defective axonal transport, excitotoxicity, insufficient growth factor signaling, and inflammation. Damage within motor neurons is enhanced by damage incurred by nonneuronal neighboring cells, via an inflammatory response that accelerates disease progression. These findings validate therapeutic approaches aimed at nonneuronal cells.

show abstract

“…ALS/MND with frontotemporal dementia has been mapped to a 17-cM interval chromosome 9q21, 45 and one Swedish family with a similar phenotype without linkage to the chromosome 9 locus has recently been identified, suggesting genetic heterogeneity for this subtype of disease. 46 Motor neurone degeneration may sometimes occur in patients with fronto-temporal dementia and Parkinson's disease, associated with mutations in the microtubule associated protein tau. 47 48 The mutant tau protein forms filamentous inclusions and insoluble aggregates that are associated with neurodegeneration.…”

Section: Dynactin Mutationmentioning

confidence: 99%