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Type

OMIM

Locus

PARK1

OMIM #168601

4q21

PARK2

OMIM *602544

6q25.2-q27

PARK3

OMIM %602404

2p13

PARK5

OMIM +191342

4p14

PARK6

OMIM #605909

1p36

PARK7

OMIM #606324

1p36

PARK8

OMIM #607060

12q12

PARK9

OMIM #606693

1p36

PARK10

OMIM %606852

1p

PARK11

OMIM %607688

2q36-37

PARK12
PARK13

OMIM %300557
OMIM #610297

Xq21-q25
2p12

Details
caused by mutations in the SNCA gene, which codes for the protein alphasynuclein. PARK1 causes autosomal dominant Parkinson disease. So-called
PARK4 (OMIM #605543) is probably caused by triplication of SNCA.[16]
caused by mutations in protein parkin. Parkin mutations may be one of the
most common known genetic causes of early-onset Parkinson disease. In
one study, of patients with onset of Parkinson disease prior to age 40 (10%
of all PD patients), 18% had parkin mutations, with 5% homozygous
mutations.[17] Patients with an autosomal recessive family history of
parkinsonism are much more likely to carry parkin mutations if age at onset
is less than 20 (80% vs
vs. 28% with onset over age 40)
40).[[18]]Patients with parkin
mutations (PARK2) do not have Lewy bodies. Such patients develop a
syndrome that closely resembles the sporadic form of PD; however, they
tend to develop symptoms at a much younger age.
autosomal dominant, only described in a few kindreds.
caused by mutations in the UCHL1 gene which codes for the protein
ubiquitin carboxy-terminal hydrolase L1
caused by mutations in PINK1 (OMIM *608309) which codes for the protein
PTEN-induced putative kinase 1.
caused by mutations in DJ-1 (OMIM 602533)
caused by mutations in LRRK2 which codes for the protein dardarin. In vitro,
mutant LRRK2 causes protein aggregation and cell death, possibly through
an interaction with parkin.[19] LRRK2 mutations, of which the most common is
G2019S, cause autosomal dominant Parkinson disease, with a penetrance
of nearly 100% by age 80.
80 [[20]] G2019S is the most common known genetic
cause of Parkinson disease, found in 1-6% of U.S. and European PD
[21]
patients. It is especially common in Ashkenazi Jewish patients, with a
prevalence of 29.7% in familial cases and 13.3% in sporadic.[22]
Caused by mutations in the ATP13A2 gene, and also known as Kufor-Rakeb
Syndrome. PARK9 may be allelic to PARK6.
However, this gene locus has conflicting data, and may not have
significance.
Caused by mutations in the HTRA2 (HtrA serine peptidase 2) gene.

Parkinson

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35

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