Disease name
|
Hereditary Parkinson disease
Hereditary Parkinson disease
|
|
Marker gene
|
Gene symbol
|
Chromosome location
|
Protein name
|
LRRK2
|
12q12 |
Leucine-rich repeat serine/threonine-protein kinase 2 |
PARK2
|
6q26 |
E3 ubiquitin-protein ligase parkin |
PARK7
|
1p36.23 |
Protein DJ-1 |
PINK1
|
1p36.12 |
Serine/threonine-protein kinase PINK1, mitochondrial |
SNCA
|
4q22.1 |
Alpha-synuclein |
SNCAIP
|
5q23.2 |
Synuclein, alpha interacting protein |
UCHL1
|
4p13 |
Synuclein, alpha interacting protein |
|
|
Prevalence
|
1-5 / 10 000 |
|
Inheritance
|
상염색체 우성, 상염색체 열성 |
|
Age of onset
|
성인기 |
|
ICD 10 code
|
G20 |
|
MIM number
|
168600
|
168601
|
300557
|
556500
|
600116
|
602404
|
602544
|
605543
|
605909
|
606324
|
606693
|
606852
|
607060
|
607688
|
610297
|
613164
|
613643
|
|
Synonym
|
Early-onset Parkinson disease |
Familial Parkinson disease |
Young-onset Parkinson disease |
|
Summary
|
Parkinson`s disease (PD) is characterized by the loss of dopaminergic neurons in the substantia nigra leading to the major clinical symptoms bradykinesia, rigidity, tremor and postural instability. It is the most common neurodegenerative movement disorder, which affects about 1% of the population over age 60. The majority of all PD cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, 5 to 15 % of all PD patients present with a positive family history for the disease. Onset is usually earlier in these forms. The characterization of familial forms of PD allowed the identification of 10 gene loci (PARK1-10) with subsequent characterization of five disease genes: alpha-synuclein, parkin, ubiquitin-C-terminal hydrolase L1, DJ-1 and PINK1. Some of these genes are also suspected to function as susceptibility factors in common sporadic PD. The identification of mutations in additional genes, i.e. NR4A2, neurofilament M and synphilin-1 in familial or apparently sporadic forms of PD provides increasing evidence for genetic heterogeneity of PD and opens new therapeutic perspectives. The disease symptoms respond well to dopaminergic therapy, however complications such as dyskinesia and dystonia are often observed after 5-10 years of treatment. |
|