FTD, ALS and PSP form a spectrum of neurodegenerative diseases with overlapping symptoms characterized by dementia,behavioral symptoms, paralysis and muscle wasting, movement impairment and other serious impairments. In Germany, it is estimated that up to 60,000 people are affected by one of these d...
Frontotemporal Dementia (FTD), also referred to as frontotemporal lobar dementia, is the second most prevalent form of early-onset dementia, following Alzheimer’s disease. The incidence of FTD is estimated to range from 0.1-46.1 per 10,000 individuals. FTD typically exhibits an auto...
Finally, progressive dementia and mutism occur. Motor signs are also prominent. Parkinsonism can be the first manifestation of the disease, and in this regard it is important to note that some FTDP-17 patients were initially misdiagnosed as having Parkinson's disease or sporadic progressive ...
Finally, progressive dementia and mutism occur. Motor signs are also prominent. Parkinsonism can be the first manifestation of the disease, and in this regard it is important to note that some FTDP-17 patients were initially misdiagnosed as having Parkinson's disease or sporadic progressive ...
dementia (FTD), mild cognitive impairment, and Parkinson’s disease (PD), as well as cerebrovascular disease, using the data generated with a custom-designed neurodegenerative disease gene panel in the Ontario Neurodegenerative Disease Research Initiative (ONDRI). As expected, only ~3% of ONDRI ...
to apathy, and to the inability to tell what feelings we or our conversational partner experience. These inabilities and alteration of the insula are also encountered in autism and other highly detrimental neuropsychiatric disorders including the behavioural variant of frontotemporal dementia (bvFTD). ...
spectrum of disorders include, Progressive bulbar palsy (PBP), Progressive muscular atrophy (PMA), Primary lat- eral sclerosis (PLS), Flail arm syndrome (Vulpian-Bern- hardt syndrome), Flail leg syndrome (Pseudopolyneuritic form) and ALS with multi-system involvement (e.g., ALS- Dementia). ...
Mutations in valosin-containing protein (VCP) gene are known to cause an inherited form of IBM with Paget disease and frontotemporal dementia (IBMPFD) (Gidaro et al., 2008, Watts et al., 2004) and have also been reported in cases with ALS and FTD (Johnson et al., 2010, Koppers et ...
The Rh of the monomeric forms of the mutants D1D2-L556S (4.7 ± 0.1 nm) and D1D2-R376C (4.6 ± 0.1 nm) were similar to the values seen for the D1D2-WT construct, while the dimeric form of the D1D2-L556S mutant had an Rh of 5.5 ± 0.1 nm (Table S1). These values...
These variants found in simple or compound heterozygosity can lead to the late-onset form of citrullinemia type I, associated with high ammonia levels, which can lead to cerebral dysfunction and thus to the development of dementia. The presence of urea cycle disorder-causing mutations can be ...