PARKINSON DISEASE 8, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: PARK8
Number of Symptoms 19
OrphanetNr:
OMIM Id: 607060
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0004409) Hyposmia 16 / 7739
2
(HPO:0002548) Parkinsonism with favorable response to dopaminergic medication 13 / 7739
3
(HPO:0002322) Resting tremor 14 / 7739
4
(HPO:0000726) Dementia 131 / 7739
5
(HPO:0002067) Bradykinesia 62 / 7739
6
(HPO:0002063) Rigidity 92 / 7739
7
(HPO:0001300) Parkinsonism 75 / 7739
8
(HPO:0001268) Mental deterioration 88 / 7739
9
(HPO:0002172) Postural instability 22 / 7739
10
(OMIM) Neurofibrillary MAPT (tau)-positive tangles 1 / 7739
11
(OMIM) Neuronal loss in the substantia nigra 2 / 7739
12
(OMIM) Secondary motor complications develop in 50% of those on levodopa therapy 1 / 7739
13
(HPO:0011960) Substantia nigra gliosis 4 / 7739
14
(OMIM) Gliosis in the substantia nigra 1 / 7739
15
(HPO:0003677) Slow progression 134 / 7739
16
(HPO:0100315) Lewy bodies 5 / 7739
17
(OMIM) Pigmentary loss in the substantia nigra 1 / 7739
18
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
19
(HPO:0003829) Incomplete penetrance 85 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hasegawa and Kowa (1997) reported a large Japanese family with autosomal dominant parkinsonism characterized by laterality of parkinsonism at onset, mean age of onset at 51 +/- 6 years, and favorable response to dopaminergic medication. Neuropathologic examination showed ...
Genotype-Phenotype Correlations OMIM Alcalay et al. (2009) found that 34 (3.7%) of 925 patients with early-onset PD, defined as age at onset before age 51 years, carried the G2019S mutation. Compared to noncarriers, carriers of the G2019S mutation were more likely ...
Molecular genetics OMIM In affected members of 4 Basque families and 1 English family with autosomal dominant PD, Paisan-Ruiz et al. (2004) identified 2 different heterozygous mutations in the LRRK2 gene (609007.0001 and 609007.0002, respectively). The disease showed 100% penetrance. ...
Population genetics OMIM Orr-Urtreger et al. (2007) identified a heterozygous G2019S mutation in 12.3% of 472 Jewish PD patients, and in 14.8% of the 344 patients in this group who were specifically of Ashkenazi Jewish origin. The mutation was also detected ...