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Indelicato, E.* ; Zech, M. ; Eberl, A.* ; Boesch, S.*

Insights on the shared genetic landscape of neurodevelopmental and movement disorders.

Curr. Neurol. Neurosci. Rep. 25:24 (2025)
Publ. Version/Full Text DOI PMC
Open Access Gold (Paid Option)
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PURPOSE OF REVIEW: Large-scale studies using hypothesis-free exome sequencing have revealed the strong heritability of neurodevelopmental disorders (NDDs) and their molecular overlap with later-onset, progressive, movement disorders phenotypes. In this review, we focus on the shared genetic landscape of NDDs and movement disorders. RECENT FINDINGS: Cumulative research has shown that up to 30% of cases labelled as "cerebral palsy" have a monogenic etiology. Causal pathogenic variants are particularly enriched in genes previously associated with adult-onset progressive movement disorders, such as spastic paraplegias, dystonias, and cerebellar ataxias. Biological pathways that have emerged as common culprits are transcriptional regulation, neuritogenesis, and synaptic function. Defects in the same genes can cause neurological dysfunction both during early development and later in life. We highlight the implications of the increasing number of NDD gene etiologies for genetic testing in movement disorders. Finally, we discuss gaps and opportunities in the translation of this knowledge to the bedside.
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Publication type Article: Journal article
Document type Review
Corresponding Author
Keywords Cacna1a ; Cerebral Palsy ; Dystonia ; Exome Sequencing ; Movement Disorders ; Neurodevelopmental Disorders; De-novo Mutations; Inborn-errors; Dystonia; Kmt2b; Dysfunction; Expansion; Spectrum; Classification; Extraordinary; Cerebellum
ISSN (print) / ISBN 1528-4042
e-ISSN 1534-6293
Journal Current Neurology and Neuroscience Reports
Quellenangaben Volume: 25, Issue: 1, Pages: , Article Number: 24 Supplement: ,
Publisher Current Science Inc.
Publishing Place One New York Plaza, Suite 4600, New York, Ny, United States
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)
Grants Medical University of Innsbruck
European Reference Network for Rare Neurological Diseases (ERN-RND)
German Research Foundation
European Joint Programme on Rare Diseases (EJP RD Joint Transnational Call 2022)
German Federal Ministry of Education and Research (BMBF, Bonn, Germany)
Federal Ministry of Education and Research (BMBF)
Free State of Bavaria under the Excellence Strategy of the Federal Government and the Lander
Technical University of Munich-Institute for Advanced Study
Else Kroner-Fresenius-Stiftung

European Joint Programme on Rare Diseases