Parkinson Disease 23, Autosomal Recessive Early-onset; Park23

Description

Parkinson disease-23 is a progressive neurodegenerative disorder characterized by young-adult onset of parkinsonism associated with progressive cognitive impairment leading to dementia and dysautonomia. Some individuals have additional motor abnormalities. Affected individuals become severely disabled within a few decades (summary by Lesage et al., 2016).

Clinical Features

Top most frequent phenotypes and symptoms related to Parkinson Disease 23, Autosomal Recessive Early-onset; Park23

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Tremor
  • Cerebral atrophy
  • Dementia
  • Cerebral cortical atrophy
  • Rigidity
  • Mental deterioration
  • Abnormal pyramidal sign

And another 9 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Parkinson Disease 23, Autosomal Recessive Early-onset; Park23 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Parkinson Disease Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC6A3, SNCA, SPR, SYNJ1, TAF1, GIGYF2, UCHL1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, PARK7, RAB39B, LRRK2, CHCHD2, VPS13C, ATP13A2, EIF4G1, GBA , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC20A2, SLC6A3, SNCA, SNCB, SPG11, SPR, SYNJ1, TAF1, TARDBP, TWNK, TH, GIGYF2, UCHL1, XPR1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, CHCHD10 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
100 %
Parkinson all Panel.

By CeGaT GmbH (Germany).

ATXN2, SLC6A3, SNCA, SPG11, SPR, SYNJ1, TAF1, TH, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, PANK2, PARK7, RAB39B, ATP6AP2, LRRK2, ZFYVE26, CHCHD2 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Parkinson Syndrome, autosomal recessive Panel.

By CeGaT GmbH (Germany).

SYNJ1, FBXO7, PINK1, DNAJC6, PARK7, VPS13C, SLC30A10, ATP13A2, PRKN, PLA2G6, PODXL
Specificity
10 %
Genes
100 %
VPS13C.

By Fulgent Genetics Fulgent Genetics (United States).

VPS13C
Specificity
100 %
Genes
100 %

You can get up to -3 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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