Progress in familial Parkinson's disease.
To date 11 forms of familial Parkinson's disease (PD) have been mapped to different chromosome loci, of which 6 genes have been identified as the causative genes, i.e., alpha-synuclein (SNCA), parkin, UCH-L1, PINK1, DJ-1, and LRRK2. For UCH-L1, additional families with this mutation are necessary before concluding that UCH-L1 is the definite causative gene for PARK5, as only one family so far has been reported. SNCA, UCH-L1, and LRRK2 mutations cause autosomal dominant PD and the remaining gene mutations autosomal recessive PD. Age of onset tends to be younger in familial PD compared with sporadic PD, particularly so in autosomal recessive PD. Generally familial cases respond to levodopa quite nicely and progression of the disease tends to be slower. It is an interesting question how familial PD-causing proteins are mutually related each other. In this article, we review recent progress in genetics and molecular biology of familial PD.
Mizuno
Y
Y
Department of Neurology, Juntendo University School of Medicine, Bunkyo, Tokyo, Japan. y_mizuno@med.juntendo.ac.jp
Hattori
N
N
Yoshino
H
H
Hatano
Y
Y
Satoh
K
K
Tomiyama
H
H
Li
Y
Y
D017668:Age of Onset; D000978:Antiparkinson Agents / Q000627:therapeutic use; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D010300:Parkinson Disease / Q000235:genetics* / Q000378:metabolism; D044767:Ubiquitin-Protein Ligases / Q000235:genetics* / Q000378:metabolism; D051844:alpha-Synuclein / Q000235:genetics
D000978:Antiparkinson Agents; D051844:alpha-Synuclein; D007980:Levodopa; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein