[Genetics of Parkinson disease].
BACKGROUND
What is the role of genetic factors in the pathophysiology of idiopathic Parkinson's disease, one of the most frequent neurodegenerative disorders? In the past two years, identification of two genes and localization of a third one have supported the hypothesis that genetics factors are involved in idiopathic Parkinson's disease. We present arguments that support such hypothesis, and describe recent advances in genetic studies of idiopathic Parkinson's disease.


BACKGROUND
The first gene identified on chromosome 4 encodes alpha-synuclein. It causes a rare form of autosomal dominant Parkinson's disease. A locus on the short arm of chromosome 2 was recently identified in families with autosomal dominant Parkinson's disease. More recently, the gene encoding Parkin (located on chromosome 6) has been described. It already appears to be an important locus for juvenile parkinsonism with autosomal recessive transmission.


CONCLUSIONS
We now have to understand how mutations in these genes lead to selective degeneration of dopaminergic neurons, and to determine whether or not they participate in the genetic susceptibility of idiopathic Parkinson's disease.
Brassat
D
D
Fédération de neurologie, hôpital de la Pitié-Salpêtrière, Paris, France.
Durr
A
A
Agid
Y
Y
Brice
A
A
D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D002896:Chromosomes, Human, Pair 6; D006801:Humans; D008025:Ligases; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics* / Q000503:physiopathology; D010750:Phosphoproteins / Q000235:genetics; D011506:Proteins / Q000235:genetics*; D051843:Synucleins; D044767:Ubiquitin-Protein Ligases; D051844:alpha-Synuclein
D009419:Nerve Tissue Proteins; D010750:Phosphoproteins; D011506:Proteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases