28/05/2021
Consult the doctor if you are having these signs.
Parkinson's disease is the second mostcommon degenerative disease of the nervous system (Alzheimer’s disease beingthe leader). Described byJames Parkinson in 1817, this disorder ischaracterized by tremor at rest, slownessof movement (bradykinesia), rigidity ofthe extremities and neck, and minimalfacial expressions. Walking entails shortsteps, stooped posture, and a paucity ofassociated movements such as armswinging. To make matters worse, insome patients these abnormalities ofmotor function are associated withdementia. Following a gradual onsetbetween the ages of 50 and 70, the disease progresses slowly and culminates indeath 10 to 20 years later.
The defects in motor function are dueto the progressive loss of dopaminergicneurons in the substantia nigra pars compacta, a population that projects to andinnervates neurons in the caudate andputamen. Although the cause of
the progressive deterioration of these
dopaminergic neurons is not known,
genetic investigations are providing cluesto the etiology and pathogenesis.Whereas the majority of cases of Parkinson’s disease are sporadic, there may bespecific forms of susceptibility genes that
confer increased risk of acquiring the disease. Familialforms of the disease caused by singlegene mutations account for less than 10%of all cases, However, identification ofthese rare genes is likely give someinsight into molecular pathways thatmay underlie the disease. Mutations ofthree distinct genes—a-synuclein, Parkin,
and DJ-1—have been implicated in
rareforms of this disease. Identification ofthese genes provides an opportunity togenerate mutant mice carrying themutant form of the human gene, potentially providing a useful animal model inwhich the pathogenesis can be elucidated
and therapies can be tested.
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