Parkinson Disease 1, Autosomal Dominant; Park1

Description

Parkinson disease is the second most common neurogenic disorder after Alzheimer disease (AD ), affecting approximately 1% of the population over age 50. Clinical manifestations include resting tremor, muscular rigidity, bradykinesia, and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia (Polymeropoulos et al., 1996).For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see {168600}.

Clinical Features

Top most frequent phenotypes and symptoms related to Parkinson Disease 1, Autosomal Dominant; Park1

  • Spasticity
  • Delayed speech and language development
  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Dysphagia
  • Dystonia
  • Depressivity
  • Encephalopathy
  • Babinski sign

And another 30 symptoms. If you need more information about this disease we can help you.

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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.

Alternative names

Parkinson Disease 1, Autosomal Dominant; Park1 Is also known as parkinson disease 1, autosomal dominant lewy body.

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.


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Parkinson Disease 1, Autosomal Dominant; Park1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Alpha Synuclein (SNCA) Duplication/Deletion Test.

By Athena Diagnostics Inc (United States).

SNCA
Specificity
100 %
Genes
100 %
Alpha Synuclein (SNCA) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

SNCA
Specificity
100 %
Genes
100 %
Complete Parkinsonism Evaluation.

By Athena Diagnostics Inc (United States).

SNCA, PINK1, PARK7, LRRK2, PRKN
Specificity
20 %
Genes
100 %
Movement Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Parkinson's Disease.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SLC6A3, SNCA, TAF1, TH, VPS35, FBXO7, PINK1, PARK7, LRRK2, CSF1R, DCTN1, ATP13A2, GBA, GCH1, MAPT, ATP1A3, PRKN, PLA2G6, POLG
Specificity
6 %
Genes
100 %
SNCA.

By Institute for Human Genetics University Clinic Freiburg (Germany).

SNCA
Specificity
100 %
Genes
100 %
SNCA. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

SNCA
Specificity
100 %
Genes
100 %
SNCA. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

SNCA
Specificity
100 %
Genes
100 %

We have 48 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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