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Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
Thirteen families have been described with an autosomal dominantly inherited dementia named frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), historically termed Pick's…
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
It is demonstrated that in multiple FTD families with significant evidence for linkage to the same region on chromosome 17q21, FTD is caused by mutations in progranulin (PGRN) that are likely to create null alleles and identified mutations in PGRN as a cause of neurodegenerative disease.
Neurofibrillary tangles, amyotrophy and progressive motor disturbance in mice expressing mutant (P301L) tau protein
The phenotype of mice expressing P301L mutant tau mimics features of human tauopathies and provides a model for investigating the pathogenesis of diseases with NFT.
A new subtype of frontotemporal lobar degeneration with FUS pathology.
- M. Neumann, R. Rademakers, S. Roeber, M. Baker, H. Kretzschmar, I. Mackenzie
- Biology, MedicineBrain : a journal of neurology
- 1 November 2009
Findings suggest that FUS is the pathological protein in a significant subgroup of sporadic FTD and reinforce the concept that FTd and amyotrophic lateral sclerosis are closely related conditions.
TDP‐43 A315T mutation in familial motor neuron disease
The discovery of a missense mutation in TDP‐43 in a family with dominantly inherited motor neuron disease provides evidence of a direct link between altered T DP‐43 function and neurodegeneration.
Association of an extended haplotype in the tau gene with progressive supranuclear palsy.
It is shown that the more common haplotype (H1) is significantly over-represented in patients with progressive supranuclear palsy (PSP), extending earlier reports of an association between an intronic dinucleotide polymorphism and PSP.
Mutations in the colony stimulating factor 1 receptor (CSF1R) cause hereditary diffuse leukoencephalopathy with spheroids
It is suggested that HDLS may result from partial loss of CSF1R function, and an important role for microglial dysfunction in HDLS pathogenesis is suggested.
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.
Clinical examination of patients with PGRN mutations revealed highly variable onset ages with language dysfunction as a common presenting symptom, and neuropathological examination showed FTLD with ubiquitin-positive cytoplasmic and intranuclear inclusions in all P GRN mutation carriers.