Movement Disorders in Prionopathies: A Systematic Review

Federico Rodriguez-Porcel, Department of Neurology, Medical University of South Carolina, Charleston, SC, USA.
Vinícius Boaratti Ciarlariello, Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São Paulo, SP, BR.
Alok K. Dwivedi, Division of Biostatistics & Epidemiology, Department of Molecular and Translational Medicine, Texas Tech University Health Sciences Center, El Paso, TX, USA.
Lilia Lovera, Department of Neurology, Medical University of South Carolina, Charleston, SC, USA.
Gustavo Da Prat, Department of Neurology, Institute of Neuroscience of Buenos Aires (INEBA), Buenos Aires, AR.
Ricardo Lopez-Castellanos, James J. and Joan A. Gardner Center for Parkinson Disease and Movement Disorders, Department of Neurology and Rehabilitation Medicine, University of Cincinnati, Cincinnati, OH, USA.
Ritika Suri, James J. and Joan A. Gardner Center for Parkinson Disease and Movement Disorders, Department of Neurology and Rehabilitation Medicine, University of Cincinnati, Cincinnati, OH, USA.Follow
Holly Laub, James J. and Joan A. Gardner Center for Parkinson Disease and Movement Disorders, Department of Neurology and Rehabilitation Medicine, University of Cincinnati, Cincinnati, OH, USA.
Ruth H. Walker, Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY, USA.
Orlando Barsottini, Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São Paulo, SP, BR.
José Luiz Pedroso, Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São Paulo, SP, BR.
Alberto J. Espay, James J. and Joan A. Gardner Center for Parkinson Disease and Movement Disorders, Department of Neurology and Rehabilitation Medicine, University of Cincinnati, Cincinnati, OH, USA.

Document Type

Article

Abstract

BACKGROUND: Movement disorders are frequent features of prionopathies. However, their prevalence and onset remain poorly described. METHODS: We performed a systematic review of case reports and case series of pathologically- and genetically confirmed prionopathies. Timing of symptom and movement disorder onset were documented. Continuous variables were compared between two groups using the Wilcoxon rank sum test and between multiple groups using Kruskal-Wallis test. Categorical variables were compared using Fisher's exact test. RESULTS: A total of 324 cases were included in this analysis. Movement disorders were a common feature at the onset of symptoms in most prionopathies. Gait ataxia was present in more than half of cases in all types of prionopathies. The prevalence of limb ataxia (20%) and myoclonus (24%) was lower in Gerstmann-Sträussler-Scheinker disease compared to other prionopathies (p ≤ 0.004). Myoclonus was common but often a later feature in sporadic Creutzfeldt-Jakob disease (2 months before death). Chorea was uncommon but disproportionately prevalent in variant Creutzfeldt-Jakob disease (30% of cases; p < 0.001). In genetic Creutzfeldt-Jakob disease, E200K carriers exhibited gait and limb ataxia more often when compared to other mutation carriers. DISCUSSION: Movement disorders are differentially present in the course of the various prionopathies. The movement phenomenology and appearance are associated with the type of prion disease and the genotype and likely reflect the underlying pattern of neurodegeneration. Reliance on myoclonus as a diagnostic feature of sporadic Creutzfeldt-Jakob disease may delay its recognition given its relatively late appearance in the disease course.

Medical Subject Headings

Humans; Movement Disorders (complications, diagnosis, genetics); Mutation (genetics); Myoclonus (complications, diagnosis, genetics); Prion Diseases (complications, diagnosis, genetics)

Publication Date

1-1-2019

Publication Title

Tremor and other hyperkinetic movements (New York, N.Y.)

E-ISSN

2160-8288

Volume

9

PubMed ID

31871824

Digital Object Identifier (DOI)

10.7916/tohm.v0.712

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