Genetics of Parkinsonism

Genetics of Parkinsonism

Parkinson’s Disease (PD), the second most frequent neurodegenerative disorder after Alzheimer’s disease (six million patients world-wide), is generally diagnosed after the sixth decade. It causes motor dysfunctions, such as bradykinesia, resting tremor, rigidity and postural instability, but also affects autonomic functions and cognition. PD results mainly from progressive degeneration of dopam...

Update on genetics of parkinsonism.

BACKGROUND Major progress in genetic studies of Parkinson's disease (PD) and parkinsonism has been achieved in the last two decades. OBJECTIVE We provide a brief review of the current status of PARK and non-PARK loci/genes, and discuss two new genes: eIF4G1 and VPS35. METHODS The literature on PARK and non-PARK loci/genes was reviewed and some novel information on two new genes is provided....

Genetics of Atypical Parkinsonism Implications for Nosology

The Genetics of Early Onset Parkinsonism

SUMMARY Parkinson's disease (PD) has a worldwide distribution, and is the second most common neurodegenerative disorder after Alzheimer's disease. Clinically, the disease is characterized by the classic triad of motor symptoms; bradykinesia (slowness of movements), muscular rigidity, and resting tremor, and by a wide range of non-motor symptoms. Pathologically, PD is characterized by a progress...

X-Linked Dystonia Parkinsonism: Clinical Phenotype, Genetics and Therapeutics

The clinical phenotype of X-Linked Dystonia Parkinsonism (XDP) is typically one that involves a Filipino adult male whose ancestry is mostly traced in the Philippine island of Panay. Dystonia usually starts focally in the lower limbs or oromandibular regions, then spreads to become generalized eventually. Parkinsonism sets in later into the disease and usually in combination with dystonia. /DYT...