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Movement disorders associated with chromosomal aberrations diagnosed in adult patients
Affiliations- Department of Neurology, Faculty of Health Science, Medical University of Warsaw, Kondratowicza 8, 03-242 Warsaw, Poland
- Institute of Mother and Child, Department of Medical Genetics, Kasprzaka 17a, 01-211 Warsaw, Poland
- Department of Neurology, Mayo Clinic, Jacksonville, United States
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Abstract
Introduction. Chromosomal aberrations are rare but important causes of various movement disorders. In cases of movement disorders associated with dysmorphic features, multiorgan involvement and/or intellectual disability, the identification of causative chromosomal aberrations should be considered. Aim of the study. The purpose of this article was to summarise clinical findings in six patients with dystonia and two with parkinsonism and identified chromosomal aberrations in a single-centre prospective study. Materials and methods. 15 adult patients with dystonia or parkinsonism were referred to array comparative genomic hybridisation (aCGH) testing from our Department of Neurology between 2014 and 2019. Additionally, one patient had a karyotype examination. Detailed clinical, psychological and radiological diagnostics were performed in each case. Results. Chromosomal aberrations were identified in six patients with dystonia and two with parkinsonism. Two patients were identified with aberrations associated with de Grouchy syndrome. We also reported generalised dystonia in patients with deletion in 3q26.31 and duplication in 3p26.3, as well as dystonia and hypoacusis in a patient with duplication in Xq26.3. One patient was diagnosed with duplication in 21q21.1. Early-onset parkinsonism was a manifestation of deletion in the 2q24.1 region. Late onset parkinsonism was also present in the patient with the most severe aberrations (duplication 1q21.1q44; deletion 10p15.3p15.1; deletion 10q11.21). Conclusions. Dystonia and parkinsonism are possible manifestations of chromosomal aberrations. Chromosomal aberrations should be excluded in patients with early-onset movement disorders and concomitant dysmorphic features and/or intellectual disability. It is important to include this cause of movement disorders in future classifications. aCGH can be a valuable diagnostic tool in the evaluation of movement disorder aetiology.
Abstract
Introduction. Chromosomal aberrations are rare but important causes of various movement disorders. In cases of movement disorders associated with dysmorphic features, multiorgan involvement and/or intellectual disability, the identification of causative chromosomal aberrations should be considered. Aim of the study. The purpose of this article was to summarise clinical findings in six patients with dystonia and two with parkinsonism and identified chromosomal aberrations in a single-centre prospective study. Materials and methods. 15 adult patients with dystonia or parkinsonism were referred to array comparative genomic hybridisation (aCGH) testing from our Department of Neurology between 2014 and 2019. Additionally, one patient had a karyotype examination. Detailed clinical, psychological and radiological diagnostics were performed in each case. Results. Chromosomal aberrations were identified in six patients with dystonia and two with parkinsonism. Two patients were identified with aberrations associated with de Grouchy syndrome. We also reported generalised dystonia in patients with deletion in 3q26.31 and duplication in 3p26.3, as well as dystonia and hypoacusis in a patient with duplication in Xq26.3. One patient was diagnosed with duplication in 21q21.1. Early-onset parkinsonism was a manifestation of deletion in the 2q24.1 region. Late onset parkinsonism was also present in the patient with the most severe aberrations (duplication 1q21.1q44; deletion 10p15.3p15.1; deletion 10q11.21). Conclusions. Dystonia and parkinsonism are possible manifestations of chromosomal aberrations. Chromosomal aberrations should be excluded in patients with early-onset movement disorders and concomitant dysmorphic features and/or intellectual disability. It is important to include this cause of movement disorders in future classifications. aCGH can be a valuable diagnostic tool in the evaluation of movement disorder aetiology.
Keywords
dystonia, Parkinson’s disease, chromosomal aberrations, microarray, parkinsonism
About this articleTitle
Movement disorders associated with chromosomal aberrations diagnosed in adult patients
Journal
Neurologia i Neurochirurgia Polska
Issue
Article type
Research Paper
Pages
300-305
Published online
2021-05-13
Page views
1157
Article views/downloads
708
DOI
Pubmed
Bibliographic record
Neurol Neurochir Pol 2021;55(3):300-305.
Keywords
dystonia
Parkinson’s disease
chromosomal aberrations
microarray
parkinsonism
Authors
Monika Figura
Maciej Geremek
Łukasz M. Milanowski
Izabela Meisner-Kramarz
Karolina Duszyńska-Wąs
Stanisław Szlufik
Dorota Różański
Marta Smyk
Dariusz Koziorowski
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