The G209A Mutation in the α-Synuclein Gene Is Not Detected in Familial Cases of Parkinson Disease in Non-Greek and/or Italian Populations
Open Access
- 1 December 1998
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Neurology
- Vol. 55 (12) , 1521-1523
- https://doi.org/10.1001/archneur.55.12.1521
Abstract
PARKINSON DISEASE (PD) is one of the most common neurodegenerative disorders, characterized by bradykinesia, cogwheel rigidity, rest tremor, and impaired postural reflexes.1,2 Degeneration of dopaminergic neurons in the central nervous system and the presence of Lewy body cytoplasmic inclusions, particularly in substantia nigra, is the pathological hallmark of PD, but the cause of this selective neuronal degeneration remains unknown.1,2 Although an encephalitis virus (von Economo) and toxins such as 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) have caused clinical and pathological syndromes similar to PD in a small portion of cases, efforts to identify causative environmental factors in PD have been unsuccessful in most patients.1,2 Oxidative stress involving local iron accumulation, reduced glutathione levels, and mitochondrial dysfunction may play a role in the neuronal loss of PD, but it is not known whether these mechanisms are pathogenic events in PD.1Keywords
This publication has 1 reference indexed in Scilit:
- Frontotemporal dementia and parkinsonism linked to chromosome 17: A consensus conferenceAnnals of Neurology, 1997