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Screening for the C9ORF72 Expansion in Greek Huntington Disease Phenocopies and Controls and Meta-analysis of Current Data Cover

Screening for the C9ORF72 Expansion in Greek Huntington Disease Phenocopies and Controls and Meta-analysis of Current Data

Open Access
|Jun 2020

Figures & Tables

Table 1

Clinical characteristics of patients characterized as HD phenocopies in the meta-analysis included.

StudyEthnicityChorea n/%Other movement disorder1 n/%Cognitive impairment n/%Psychiatric disturbance n/%Family history n/%Criteria for diagnosis
Hensman Moss 2014European (not further specified)157 (31)57 (11.1), 84 (16.3), 42 (8.2), 73 (14.2), 35 (6.8)176 (34.2)60 (11.7)105 (20.4)Clinical diagnosis of HD
Kostic 2014Serbian39 (100)31 (79.5)29 (74)25 (64)?Chorea plus two (CI, B/P, FH)
Koutsis 2015Greek31 (77.5)4 (10), 8 (20), 2 (5), 6 (15), 1 (2.5)23 (57.5)27 (67.5)14 (35)1 movement disorder plus one(CI, B/P, exclusion of other causes)
Mariani 2016MixedNo data available1 movement disorder plus one(CI, B/P, FH)
Baine 2018Black-South AfricanNo data availableClinical diagnosis of HD
Martins 2018PortugueseNo data availableClinical diagnosis of HD
Current study 2019Greek47 (64)12 (16), –, –, –, 15 (20)46 (62)53 (58)22 (30)One movement disorder plus one (CI, B/P), exclusion of other causes

[i] 1 Orderly: Dystonia; Bradykinesia; Tremor; Ataxia; Myoclonus. CI: cognitive impairment; B/P: behavioral/psychiatric disturbances; FH: family history; HD: Huntington disease.

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Figure 1

Interaction guide for the online database.

Table 2

Studies included in the meta-analysis.

StudyCasesPositive casesControlsPositive controlsEthnicity
Hensman 201451410naCaucasian
Kostic 2014391naCaucasian
Koutsis 2015402naCaucasian
Mariani 2016280naCaucasian
Baine 2018970naSouth African
Martins 2018201naCaucasian
Current study 2019741670Caucasian
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Figure 2

Meta-analysis Forest Plot.

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Figure 3

Investigation of publication bias. DOI plot.

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Figure 4

Investigation of publication bias. Funnel plot.

DOI: https://doi.org/10.5334/tohm.61 | Journal eISSN: 2160-8288
Language: English
Submitted on: Nov 26, 2019
Accepted on: Apr 22, 2020
Published on: Jun 12, 2020
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2020 Dimitrios Rikos, Chrysoula Marogianni, Antonios Provatas, Thomas Bourinaris, Marianthi Arnaoutoglou, Pantelis Stathis, George P. Patrinos, Efthimios Dardiotis, George M. Hadjigeorgiou, Georgia Xiromerisiou, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.