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GTR Home > Conditions/Phenotypes > Autosomal recessive early-onset Parkinson disease 6

Autosomal recessive early-onset Parkinson disease 6

Synonyms
PARKINSON DISEASE 6, EARLY-ONSET; PARKINSON DISEASE 6, MODIFIER OF; PINK1 Type of Young-Onset Parkinson Disease; PINK1-Related Parkinson Disease

Summary

Excerpted from the GeneReview: PINK1 Type of Young-Onset Parkinson Disease
PINK1 type of young-onset Parkinson disease is characterized by early onset (median age at onset 32 years) of tremor, bradykinesia, and rigidity that are often indistinguishable from other causes of Parkinson disease. Lower-limb dystonia may be a presenting sign. Postural instability, hyperreflexia, abnormal behavior, and psychiatric manifestations have been described. The disease is usually slowly progressive. Individuals have a marked and sustained response to oral administration of levodopa (L-dopa), frequently associated with L-dopa-induced fluctuations and dyskinesias.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Lara M Lange
Christine Klein
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Available tests

44 tests are in the database for this condition.

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Clinical tests (44 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BRPK, PARK6, PINK1
    Summary: PTEN induced kinase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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