ALS is a neurodegenerative disease of upper and lower motor neurons that can manifest in such a way that it can be misdiagnosed. Such areas include respiratory muscles with initial diagnosis of asthma, or even psychological problems that appear as a dementia . The primary manifestations are not restricted to any certain area of the body. FALS is inherited autosomally as a dominant trait [9,12,13,17]. It exhibits heterogeneity and may not be present in a consecutive generation .
Neurology 1988; 38(suppl 2): 14-18. Weiner HL, Mackin GA, Orva EJ, et al. Intermittent cyclophosphamide pulse therapy in progressive multiple sclerosis: final report of the Northeast Cooperative Multiple Sclerosis Treatment Group. Neurology 1991: 41: 1047.
Instead, clinicians must rely on both the topographic distribution of the neuronal loss and the finding of some characteristic cytological changes. The precise pattern of these changes, however, varies to some extent, depending on whether the disease is of the classical sporadic type, one of the less common familial types, or the Chamorro form in Guam (1). The primary feature of ALS is anterior horn neuronal cell degeneration and loss. The pathologic features of this process include shrinkage and pyknosis of the large spinal motor neurons (with consequent prominence of lipofuscin), the presence of ghost cells, neuronophagia, and gliosis (2). There is a massive loss of Betz cells and other pyramidal cells from the precentral cortex.
et al. Current Opinion in Cell Biology 1989, 1: 617–623 3. Mellman I. Annu Rev Cell Dev Biol 1996, 12: 575–625. 4. Kovacsovics-Bankowski M, Rock K.L.
They are excitatory amino acid disturbances, oligodendroglial microtubular tangles, and phospholipid metabolism disorders. The only treatment for OPCA is therapy focusing on improving the dysphagia associated with the disorder. Olivopontocerebellar Atrophy Olivopontocerebellar Atrophy (OPCA) is a disease characterized primarily by the degeneration of neurons in the cerebellar cortex, pons, and inferior olive. It is a genetic disease, being either autosomal dominant or autosomal recessive in nature. This disorder, which usually occurs in the middle years of life, presents symptoms of cerebellar ataxia, equilibrium disturbance, nystagmus, dysphasia, dysarthria, and possibly intellectual deficits.
Three pathways have been found to be deregulated in melanocytic tumours, including the RAS-RAF-MEK-ER... ... middle of paper ... ...l autonomous growth: the Rb/E2F pathway. Cancer Metastasis Rev. 18 (3), 333-43. 5. Linley AJ, Mathieu MG, Miles AK, Rees RC, McArdle SE, Regad T. (2012).
Familial hypercholesterolemia (FH) is a monogenic genetic disorder that affects in its heterozygous form 1:500 of the population. It is associated with mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. PCSK9 normally directs lysosomal degradation of LDLR and has been proposed as an attractive target of cholesterol-lowering therapy. In a paper published in Hepatology, Zaid and colleagues analyze the liver-specific role of PCSK9 and reveal its crucial part in liver regeneration. They show that the liver is the major site of expression and source of circulating PCSK9; still extra-hepatic tissues depend on their own expression to regulate LDLR activity.
The human body is a complex and fragile system that requires metabolic balance throughout different organ systems by the use of different proteins. For a human body to maintain the metabolic balance, everything must be functioning properly. Amyloid is an abnormal protein that is produced in the bone marrow can are deposited in organs. The amyloid proteins are misfolded proteins that are copied and have stuck together to produce a large fibril, losing their normal function as well as disrupting the functions of nearby tissues and organs(Amyloidosis Foundation, 2016). This production of amyloid proteins arises from at least eighteen different proteins and polypeptides that have misfolded and are also associated with multiple diseases and disorders
Neurobiol Dis 47:155-162. West MJ, Coleman PD, Flood DG, Troncoso JC (1994) Differences in the pattern of hippocampal neuronal loss in normal ageing and Alzheimer's disease. Lancet 344:769-772. Yetman MJ, Jankowsky JL (2013) Wild-type neural progenitors divide and differentiate normally in an amyloid-rich environment. J Neurosci 33:17335-17341.