Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population
نویسندگان
چکیده
منابع مشابه
Familial behavioral variant frontotemporal dementia associated with astrocyte-predominant tauopathy.
A familial behavioral variant frontotemporal dementia associated with astrocyte-predominant tauopathy is described in 2 sisters born from consanguineous parents. The neuropathologic examination revealed massive accumulation of abnormally hyperphosphorylated, conformational, truncated tau at aspartic acid 421, ubiquitinated and nitrated tau at Tyr29 in cortical astrocyte (including their perivas...
متن کاملDefining the spectrum of frontotemporal dementias associated with TARDBP mutations
OBJECTIVES We describe the largest series of patients with TARDBP mutations presenting with frontotemporal dementia (FTD) and review the cases in the literature to precisely characterize FTD diseases associated with this genotype. METHODS The phenotypic characteristics of 29 TARDBP patients, including 10 new French and Dutch cases and 19 reviewed from the literature, were evaluated. RESULTS...
متن کاملTemporal Variant Frontotemporal Dementia Is Associated with Globular Glial Tauopathy
Frontotemporal dementia (FTD) is a clinically and pathologically heterogeneous neurodegenerative disorder associated with atrophy of the frontal and temporal lobes. Most patients with focal temporal lobe atrophy present with either the semantic dementia subtype of FTD or the behavioral variant subtype. For patients with temporal variant FTD, the most common cause found on post-mortem examinatio...
متن کاملDistribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population
Exome sequencing studies in complex diseases are challenged by the allelic heterogeneity, large number and modest effect sizes of associated variants on disease risk and the presence of large numbers of neutral variants, even in phenotypically relevant genes. Isolated populations with recent bottlenecks offer advantages for studying rare variants in complex diseases as they have deleterious var...
متن کاملA Population-Specific Uncommon Variant in GRIN3A Associated with Schizophrenia
BACKGROUND Genome-wide association studies have successfully identified several common variants showing robust association with schizophrenia. However, individually, these variants only produce a weak effect. To identify genetic variants with larger effect sizes, increasing attention is now being paid to uncommon and rare variants. METHODS From the 1000 Genomes Project data, we selected 47 ca...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2019
ISSN: 1018-4813,1476-5438
DOI: 10.1038/s41431-019-0383-8