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Criteria for the diagnosis of corticobasal degeneration
Clinical CBD phenotypes and features were combined to create 2 sets of criteria: more specific clinical research criteria for probable CBD and broader criteria for possible CBD that are more inclusive but have a higher chance to detect other tau-based pathologies.
Mutation within TARDBP leads to Frontotemporal Dementia without motor neuron disease
It is suggested that TARD BP mutations can be pathogenetic of bvFTD without motor neuron disease, and TARDBP screening needs to be considered in FTD cases.
Identification of common variants influencing risk of the tauopathy Progressive Supranuclear Palsy
Two independent variants in MAPT affecting risk for PSP are confirmed, one of which influences MAPT brain expression and the genes implicated encode proteins for vesicle-membrane fusion at the Golgi-endosomal interface and for a myelin structural component.
MCI conversion to dementia and the APOE genotype
Fluoro-2-deoxy-d-glucose-PET measures may improve prediction of the conversion to Alzheimer disease, especially in combination with the APOE genotype.
Cerebrospinal fluid soluble TREM2 is higher in Alzheimer disease and associated with mutation status
Low frequency coding variants in TREM2 are associated with increased Alzheimer disease (AD) risk, while loss of functions mutations in the gene lead to an autosomal recessive early-onset dementia,
Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration
A retrospective analysis of clinical, neuropsychological and neuroimaging features in a pathologically ascertained cohort of 95 cases of frontotemporal lobar degeneration classified according to contemporary neuropathological criteria suggests a neuroanatomical framework underpinning this clinical and pathological diversity is suggested.
A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats
In vitro reporter gene expression studies demonstrated significantly decreased transcriptional activity of C9orf72 with increasing number of normal repeat units, indicating that intermediate repeats might act as predisposing alleles and in favor of the loss‐of‐function disease mechanism.
Heterogeneity of brain glucose metabolism in mild cognitive impairment and clinical progression to Alzheimer disease.
Data provide evidence for clinical and functional heterogeneity among subjects with aMCI and suggest that 18FDG-PET findings combined with memory scores may be useful in predicting short-term conversion to AD.