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Review

Parkin Type of Early-Onset Parkinson Disease

Norbert Brüggemann  1 , Christine Klein  1
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
Affiliations
Free Books & Documents
Review

Parkin Type of Early-Onset Parkinson Disease

Norbert Brüggemann et al.
Free Books & Documents

Excerpt

Clinical characteristics: Parkin type of early-onset Parkinson disease (PARK-Parkin) is characterized by the cardinal signs of Parkinson disease (PD): bradykinesia, resting tremor, and rigidity. The median age at onset is 31 years (range: 3-81 years). The disease is slowly progressive: disease duration of more than 50 years has been reported. Clinical findings vary; hyperreflexia is common. Lower-limb dystonia may be a presenting sign and cognitive decline appears to be no more frequent than in the general population. Dyskinesia as a result of treatment with levodopa frequently occurs.

Diagnosis/testing: The diagnosis of PARK-Parkin is established in a proband with suggestive findings and biallelic pathogenic variants in PRKN identified by molecular genetic testing.

Management: Treatment of manifestations: Levodopa and dopamine agonists, MAO B inhibitors, COMT inhibitors, and amantadine; deep brain stimulation for those experiencing difficulty with levodopa therapy.

Surveillance: Neurologic follow up including assessment of treatment every six to 12 months.

Agents/circumstances to avoid: Use of levodopa therapy that exceeds the dose needed for satisfactory clinical response. Neuroleptic treatment may exacerbate parkinsonism.

Genetic counseling: PARK-Parkin is inherited in an autosomal recessive manner. At conception, each sib of a proband has a 25% chance of being affected, a 50% chance of being a carrier, and a 25% chance of being unaffected and not a carrier. Once the PRKN pathogenic variants in a family are known, carrier testing for at-risk relatives, prenatal testing for pregnancies at increased risk, and preimplantation genetic testing are possible.

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References

Published Guidelines / Consensus Statements

    1. Committee on Bioethics, Committee on Genetics, and American College of Medical Genetics and Genomics Social, Ethical, Legal Issues Committee. Ethical and policy issues in genetic testing and screening of children. Available online. 2013. Accessed 5-25-21.
    1. National Society of Genetic Counselors. Position statement on genetic testing of minors for adult-onset conditions. Available online. 2018. Accessed 5-25-21.

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