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Chapter 29 - Genetic Parkinsonisms

from Section 2: - Hypokinetic Movement Disorders

Published online by Cambridge University Press:  07 January 2025

By
Jaroslaw Dulski ,
Shinsuke Fujioka  and
Zbigniew K. Wszolek
Edited by
Erik Ch. Wolters  and
Christian R. Baumann
Erik Ch. Wolters
Affiliation:
Universität Zürich
Christian R. Baumann
Affiliation:
Universität Zürich
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Summary

Parkinsonism is used to describe a clinical syndrome of bradykinesia, rest tremor, rigidity and postural instability, and is present in a many sporadic and genetic disorders. The most common cause of parkinsonism is Parkinson’s disease (PD). Typical parkinsonism is characterized by asymmetry, slow progression, and excellent L-Dopa response, whereas atypical parkinsonism is parkinsonism with additional features (oculomotor abnormalities, myoclonus, cerebellar and pyramidal signs, ataxia), faster progression, and poor L-Dopa response. The genetic landscape of parkinsonism may be divided into monogenic variants; oligo- and polygenic forms of (a)typical parkinsonism; and intermediate variants with incomplete penetrance and low frequency. Typical and atypical parkinsonisms are reviewed, presenting and discussing 101 genes and loci associated with parkinsonism, classified based on phenotype into autosomal-dominant typical parkinsonisms, autosomal-recessive (a)typical parkinsonisms, other genetic forms of (a)typical parkinsonisms, and genetic syndromes with features of atypical parkinsonism. Genetic susceptibility and issues related to diagnostic genetic tests are also discussed.

Keywords

Autosomal-dominant genetic forms of parkinsonismsautosomal-recessive forms of parkinsonismsother genetic forms of parkinsonismsgenetic forms of disorders with features of parkinsonism
Type
Chapter
Information
International Compendium of Movement Disorders , pp. 347 - 367
Publisher: Cambridge University Press
Print publication year: 2025

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