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.