Neurodegenerative diseases fatal

The transmissible spongiform encephalopathies, or prion diseases, are fatal neurodegenerative diseases characterized by spongiform changes, astrocytic gliomas, and neuronal loss resulting from the deposition of insoluble protein aggregates in neural cells. They include Creutzfeldt-Jakob disease in humans, scrapie in... 

Amyotrophic lateral sclerosis (ALS) is a progressive, usually fatal, neurodegenerative disease caused by the degeneration of motor neurons in the central nervous system. No cure has yet been found for ALS. The U.S. Food and Drug Administration (FDA) has approved riluzole as the first drug treatment for the disease. It delays the onset of ventilator-dependence or tracheostomy in selected patients. A Cochrane review states a 9% gain in the probability of surviving one year (see Miller et ah, 2007). 

Before 1985, GH was obtained from human cadaver pituitary glands. A small number of individuals who received cadaver-derived pooled growth hormone preparations developed Creutzfeldt-Jakob disease, a fatal neurodegenerative disease that presented many years after GH treatment. (This... 

Transmissible spongiform encephalopathies are a group of rare, fatal, and transmissible neurodegenerative diseases, which, in addition to scrapie and BSE, include chronic wasting disease (CWD) in mule deer (Williams and Young, 1980) and elk (Williams and Young, 1982), and transmissible mink encephalopathy (TME) (Marsh and Kimberlin,... 

In many neurodegenerative diseases, neurodegeneration shortens the life expectancy of patients, but other neurodegenerative diseases are fatal per se. Only those diseases in which neurological structures impair ability to control or execute such vital functions as respiration, heart rate, or blood pressure are deadly (Przedborski et al., 2003). Thus, in ALS, loss of lower motor neurons innervating respiratory muscles leads the patient to succumb to respiratory failure. Alternatively,... 

Excursions too far into the realm of protein insolubility present a variety of tragic and ultimately fatal neurodegenerative diseases. In humans there are two causative proteins the prion protein of transmissible spongiform encephalopathies and the amyloid precursor protein of Alzheimer s disease. In general, there are some 15 proteins that by mutations or processing errors exhibit similar protein amyloid deposits that result in organ damage. Such protein insolubilities occur in mammals, birds, and even yeast. ... 

Alzheimer s disease, Parkinson s disease, Huntington s disease and amyotrophic lateral sclerosis (ALS) are four prominent fatal neurodegenerative disorders that involve the death of specific populations of neurons (see details in respective chapters). Studies of patients and animal and culture models have provided considerable insight in the cellular and molecular mechanisms responsible for synaptic dysfunction and neuronal degeneration in each disorder [18], In Alzheimer s disease, abnormalities in proteolytic processing of the amyloid precursor protein, due to gene... 

This disease develops when an abnormal prion protein present in the cadaveric material induces a cascade of conformational changes in host protein. Creutzfeldt-Jakob disease in recipients of somatropin differs from the sporadic form, in that it usually presents with cerebellar signs rather than cognitive impairment, and also in the prominence of prion protein amyloid plaques in nervous tissue (18). In a review, 139 cases of Creutzfeldt-Jakob disease were identified worldwide in people treated with cadaveric somatropin before recombinant human growth hormone became available in the mid-1980s (19). The prevalence of this fatal neurodegenerative condition in recipients of somatropin ranges from 0.3% in the USA to 4.4% in France. Creutzfeldt-Jakob disease has been reported to start at 4-30 years after therapy with cadaveric somatropin (18), so that further cases are anticipated and continue to be reported (20). 

Genetic diseases can be divided into two main groups based on whether they are caused by relatively few common mutations or by many unique mutations. Tay-Sachs disease, a fatal neurodegenerative disorder caused by a deficiency of hexosaminidase A, is common in the Ashkenazi Jewish population. Three hexosaminidase mutations account for 96% of the disease in the Ashkenazi Jewish population (9). In contrast most patients with Fabry disease, a metabolic disorder caused by deficiency of the enzyme galactosi-dase A, have unique mutations in the galactosidase A gene (10). This... 

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