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Parkinsonism genes: culprits and clues.
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- المؤلفون: Abeliovich, Asa1,2,3,4 ; Flint Beal, M.5
- المصدر:
Journal of Neurochemistry. Nov2006, Vol. 99 Issue 4, p1062-1072. 11p. 2 Diagrams.
- الموضوع:
- معلومة اضافية
- نبذة مختصرة :
Parkinson's disease (PD) is characterized by a unique clinical constellation that includes: slowness, rigidity, gait difficulty, and tremor at rest. Pathological studies have linked this presentation to the loss of midbrain dopamine neurons ( Gelb et al. 1999 ) although other neuronal populations are also targeted in PD. Epidemiological data implicate both genetic and environmental factors in the etiology of the disease. The identification of a series of genes that underlie relatively rare, familial forms of Parkinsonism (a clinical term that encompasses ‘sporadic’ PD, familial Parkinson's-like forms, as well as other related syndromes) has brought excitement to the field. Three of the mutated familial Parkinsonism (FP) genes: Parkin, DJ-1, and PINK1, typically present with apparent autosomal recessive inheritance and are implicated in mitochondria and oxidative stress-related survival pathways. Two other FP genes: α-Synuclein ( αSyn) and LRRK2, present in an autosomal dominant pattern and are associated with prominent intracellular protein inclusions. A series of recent publications suggest novel pathways that may link the FP genes. [ABSTRACT FROM AUTHOR]
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