|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
An increased prevalence of familial neurodegenerative parkinsonism or cognitive deterioration was recently found in a small region of southeastern Moravia.The aim of the study was to assess the genetic background of this familial disease.Variants in the ADH1C, EIF4G1, FBXO7, GBA + GBAP1, GIGYF2, HTRA2, LRRK2, MAPT, PRKN, DJ-1, PINK1, PLA2G6, SNCA, UCHL1, VPS35 genes were examined in 12 clinically positive probands of the pedigree in which familial atypical neurodegenerative parkinsonism was identified in previous epidemiological studies.
|
30235682 |
2018 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Both PINK1 and parkin are the responsible genes (PARK6 and PARK2, respectively) for familial early-onset Parkinson's disease (PD).
|
28361483 |
2018 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A subset of familial PD is linked to mutations in PARK2 and PINK1, which lead to dysfunctional mitochondria-related proteins Parkin and PINK1, suggesting that pathways implicated in these monogenic forms could play a more general role in PD.
|
27641647 |
2016 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Here, we focus on the deficiency of PARK2 and its product parkin, which is relevant to both familial and sporadic PD pathogenesis.
|
23823983 |
2013 |
|
Familial (FPAH)
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Mutations in the gene encoding parkin, a neuroprotective protein with dual functions as an E3 ubiquitin ligase and transcriptional repressor of p53, are linked to familial forms of Parkinson's disease (PD).
|
23985028 |
2013 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Using dHPLC method we screened exons 31, 35, 41, 48 of the Leucine-rich repeat kinase 2 (LRRK2) gene and exons 2, 6 and 7 of Parkinson protein 2 (parkin, PARK2) genes in a cohort of 216 consecutive, unrelated Slovak patients with familial or sporadic PD, including early and late onset.
|
23531835 |
2013 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The allele frequency of PARK2 exonic CNV is significantly higher in cases than in controls (P = 0.02), higher in early-onset (AAO ≤ 40) than in late-onset cases (P = 0.001), and higher in familial than in sporadic cases (P = 0.005).
|
23616242 |
2013 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although the frequency of the PARK2 mutations in EO-PD patients according to several studies is high and has been reported in up to 50% in familial and 19% in sporadic cases, these data remain controversial.
|
19628420 |
2010 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PARKIN, pten-induced putative kinase 1 (PINK1), and DJ-1 are individually linked to autosomal recessive early-onset familial forms of Parkinson disease (PD).
|
19229105 |
2009 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the parkin gene are the most common cause of recessive familial Parkinson disease (PD).
|
19617636 |
2009 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive mutations in the parkin gene (PARK2) have been identified as a common cause of familial and also sporadic, early-onset parkinsonism (EOPD): point mutations, exonic deletions, and duplications or triplications have been described.
|
17068781 |
2007 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the parkin gene, which encodes a ubiquitin ligase, are currently recognized as the main contributor to familial forms of Parkinson's disease (PD).
|
15816865 |
2005 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene parkin in humans (PARK2) are responsible for a large number of familial cases of autosomal-recessive Parkinson disease.
|
15073152 |
2004 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the PARK2 gene coding for parkin cause autosomal recessive juvenile parkinsonism (AR-JP), a familial form of Parkinson's disease (PD).
|
15503153 |
2004 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal-recessive juvenile Parkinsonism (ARJP) is caused by mutations in the PARK2 gene coding for parkin and constitutes the most common familial form of PD.
|
15249681 |
2004 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The results do not support a role for the alpha-synuclein gene or point mutations of the parkin gene in familial PD in our sample.
|
12220378 |
2002 |