Reflections on the Field of Human Genetics: A Call for Increased
... priori, that tens or hundreds of thousands loci across the genome harbor alleles of very small effect sizes, all marginally contributing to additively increase disease risk. Moreover, many types of models may appear to have additive and nearly independent effects as those effect sizes become small. ...
... priori, that tens or hundreds of thousands loci across the genome harbor alleles of very small effect sizes, all marginally contributing to additively increase disease risk. Moreover, many types of models may appear to have additive and nearly independent effects as those effect sizes become small. ...
Molecular Pathological Classification of Neurodegenerative
... development of novel therapeutic strategies. Indeed, vaccination against α-synuclein, amyloid-β (Aβ), or tau has been explored, in particular that these proteins seem to propagate cell-to-cell and may be accessible to antibodies [10]. Disease-modifying therapeutic strategies may require reducing the ...
... development of novel therapeutic strategies. Indeed, vaccination against α-synuclein, amyloid-β (Aβ), or tau has been explored, in particular that these proteins seem to propagate cell-to-cell and may be accessible to antibodies [10]. Disease-modifying therapeutic strategies may require reducing the ...
Essential Tremor Followed by Progressive Supranuclear Palsy
... (1, 2). Rest tremor may also develop in a small proportion of ET patients with long-standing disease or severe action tremor (3). Progressive supranuclear palsy (PSP) is a syndrome variably characterized by supranuclear palsy, postural instability, and, in many cases, some degree of parkinsonism. It ...
... (1, 2). Rest tremor may also develop in a small proportion of ET patients with long-standing disease or severe action tremor (3). Progressive supranuclear palsy (PSP) is a syndrome variably characterized by supranuclear palsy, postural instability, and, in many cases, some degree of parkinsonism. It ...
Handwriting Characterization of Neurodegenerative diseases
... yet no standard theory or tool exists. This paper tries to find that definite relation between handwriting and the associated diseases. ...
... yet no standard theory or tool exists. This paper tries to find that definite relation between handwriting and the associated diseases. ...
A role for FKBP52 in Tau protein function
... rat brain. Specifically bound proteins were analyzed by immunoblotting using antibodies directed against MAP1b, MAP2, and Tau. Under these experimental conditions, no immunoreactivity was observed for MAP1b or MAP2, but Tau immunoreactivity was present (Fig. 2A). In rat brain homogenates, Tau appears ...
... rat brain. Specifically bound proteins were analyzed by immunoblotting using antibodies directed against MAP1b, MAP2, and Tau. Under these experimental conditions, no immunoreactivity was observed for MAP1b or MAP2, but Tau immunoreactivity was present (Fig. 2A). In rat brain homogenates, Tau appears ...
Calcium-Sensing Receptors of Human Neural Cells Play Crucial
... shown that highly selective allosteric CaSR antagonists (calcilytics), like NPS 2143 and NPS 89626, efficiently suppress all the neurotoxic effects Aβ42 -os•CaSR signaling drives in cultured cortical untransformed human neurons and astrocytes. In fact, calcilytics increase Aβ42 proteolysis and disco ...
... shown that highly selective allosteric CaSR antagonists (calcilytics), like NPS 2143 and NPS 89626, efficiently suppress all the neurotoxic effects Aβ42 -os•CaSR signaling drives in cultured cortical untransformed human neurons and astrocytes. In fact, calcilytics increase Aβ42 proteolysis and disco ...
The Neuropathology of Huntington`s Disease
... defining symptom has always remained that of chorea. However, despite the singlegene etiology of HD, there is remarkable variability in the types of these motor, behavioral, and cognitive symptoms present in different HD cases both at clinical onset, during the disease, and at end stage of the diseas ...
... defining symptom has always remained that of chorea. However, despite the singlegene etiology of HD, there is remarkable variability in the types of these motor, behavioral, and cognitive symptoms present in different HD cases both at clinical onset, during the disease, and at end stage of the diseas ...
RNA Interference Against BACE1 Suppresses BACE1 and Aβ
... Cerebral deposition of Aβ in neuritic plaques is one of the pathological hallmarks of Alzheimer’s Disease (AD). The activity of β-amyloid-cleaving-enzyme 1 (BACE1), an aspartyl protease that cleaves the amyloid precursor protein (APP) at the β-site, plays a key role in the formation of A-beta (Aβ) f ...
... Cerebral deposition of Aβ in neuritic plaques is one of the pathological hallmarks of Alzheimer’s Disease (AD). The activity of β-amyloid-cleaving-enzyme 1 (BACE1), an aspartyl protease that cleaves the amyloid precursor protein (APP) at the β-site, plays a key role in the formation of A-beta (Aβ) f ...
Severely dystrophic axons at amyloid plaques
... local functional impairment. Thus, we rule out long-range degeneration axons or dendrites as major contributors to early synapse loss in this model, raising the prospect of a therapeutic window for functional rescue of individual neurons lasting months or even years after their axons become highly d ...
... local functional impairment. Thus, we rule out long-range degeneration axons or dendrites as major contributors to early synapse loss in this model, raising the prospect of a therapeutic window for functional rescue of individual neurons lasting months or even years after their axons become highly d ...
Alzheimer's disease
Alzheimer's disease (AD), also known as Alzheimer disease, or just Alzheimer's, accounts for 60% to 70% of cases of dementia. It is a chronic neurodegenerative disease that usually starts slowly and gets worse over time. The most common early symptom is difficulty in remembering recent events (short-term memory loss). As the disease advances, symptoms can include problems with language, disorientation (including easily getting lost), mood swings, loss of motivation, not managing self care, and behavioural issues. As a person's condition declines, they often withdraw from family and society. Gradually, bodily functions are lost, ultimately leading to death. Although the speed of progression can vary, the average life expectancy following diagnosis is three to nine years.The cause of Alzheimer's disease is poorly understood. About 70% of the risk is believed to be genetic with many genes usually involved. Other risk factors include a history of head injuries, depression, or hypertension. The disease process is associated with plaques and tangles in the brain. A probable diagnosis is based on the history of the illness and cognitive testing with medical imaging and blood tests to rule out other possible causes. Initial symptoms are often mistaken for normal ageing. Examination of brain tissue is needed for a definite diagnosis. Mental and physical exercise, and avoiding obesity may decrease the risk of AD. There are no medications or supplements that decrease risk.No treatments stop or reverse its progression, though some may temporarily improve symptoms. Affected people increasingly rely on others for assistance, often placing a burden on the caregiver; the pressures can include social, psychological, physical, and economic elements. Exercise programs are beneficial with respect to activities of daily living and can potentially improve outcomes. Treatment of behavioral problems or psychosis due to dementia with antipsychotics is common but not usually recommended due to there often being little benefit and an increased risk of early death.In 2010, there were between 21 and 35 million people worldwide with AD. It most often begins in people over 65 years of age, although 4% to 5% of cases are early-onset Alzheimer's which begin before this. It affects about 6% of people 65 years and older. In 2010, dementia resulted in about 486,000 deaths. It was first described by, and later named after, German psychiatrist and pathologist Alois Alzheimer in 1906. In developed countries, AD is one of the most financially costly diseases.