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Review

Monogenic Parkinson Disease Overview

Huw Morris  1 , Shen-Yang Lim  2
Margaret P Adam, Sarah Bick, 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

Monogenic Parkinson Disease Overview

Huw Morris et al.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Describe the clinical characteristics of Parkinson disease;

  2. 2

    Review monogenic causes of Parkinson disease;

  3. 3

    Review the differential diagnosis of monogenic Parkinson disease;

  4. 4

    Provide an evaluation strategy to identify the cause of monogenic Parkinson disease in a proband;

  5. 5

    Provide information on targeted therapeutic clinical trials for Parkinson disease;

  6. 6

    Inform genetic counseling for family members of an individual with monogenic Parkinson disease.

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References

    1. Aloisio S, Satolli S, Bellini G, Lopriore P. Parkinsonism in complex neurogenetic disorders: lessons from hereditary dementias, adult-onset ataxias and spastic paraplegias. Neurol Sci. 2023;44:3379-88. - PMC - PubMed
    1. Balestrino R, Tunesi S, Tesei S, Lopiano L, Zecchinelli AL, Goldwurm S. Penetrance of Glucocerebrosidase (GBA) Mutations in Parkinson's Disease: A Kin Cohort Study. Mov Disord. 2020;35:2111-4. - PubMed
    1. Bega D, Kuo PH, Chalkidou A, Grzeda MT, Macmillan T, Brand C, Sheikh ZH, Antonini A. Clinical utility of DaTscan in patients with suspected Parkinsonian syndrome: a systematic review and meta-analysis. NPJ Parkinsons Dis. 2021;7:43. - PMC - PubMed
    1. Ben-Shlomo Y, Darweesh S, Llibre-Guerra J, Marras C, San Luciano M, Tanner C. The epidemiology of Parkinson's disease. Lancet. 2024;403:283-92. - PMC - PubMed
    1. Blauwendraat C, Nalls MA, Singleton AB. The genetic architecture of Parkinson's disease. Lancet Neurol. 2020;19:170-8. - PMC - PubMed

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