The developmental etiology and pathogenesis of Hirschsprung disease

Contributions of PHOX2B in the Pathogenesis of Hirschsprung Disease

Hirschsprung disease (HSCR) is a congenital malformation of the hindgut resulting from a disruption of neural crest cell migration during embryonic development. It has a complex genetic aetiology with several genes involved in its pathogenesis. PHOX2B plays a key function in the development of neural crest derivatives, and heterozygous mutations cause a complex dysautonomia associating HSCR, Co...

etiology, significance, diagnosis and treatment of bruxiam

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Etiology and Pathogenesis of Periodontal Disease

Etiology and Pathogenesis of Parkinson’s Disease

The pathological hallmarks of Parkinson’s disease (PD) are marked loss of dopaminergic neurons in the substantia nigra pars compacta (SNc), which causes dopamine depletion in the striatum, and the presence of intracytoplasmic inclusions known as Lewy bodies in the remaining cells. It remains unclear why dopaminergic neuronal cell death and Lewy body formation occur in PD. The pathological chang...

Etiology and pathogenesis of Parkinson's disease.

The past 25 years have seen a major expansion of knowledge concerning the cause of Parkinson's disease provided by an understanding of environmental and genetic factors that underlie the loss of nigral dopaminergic neurons. Based on the actions of toxins, postmortem investigations, and gene defects responsible for familial Parkinson's disease, there is now a general consensus about the mechanis...