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Quazza, F.* ; Riant, F.* ; Patera, M.* ; Suppa, A.* ; Satolli, S.* ; Burglen, L.* ; Zech, M. ; Boesch, S.* ; Indelicato, E.* ; Hainque, E.* ; Apartis, E.* ; Rodriguez, D.* ; Doummar, D.* ; Méneret, A.* ; Ravelli, C.*

Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystonia.

Parkinsonism Relat. Disord. 132:107274 (2025)
DOI PMC
BACKGROUND: ADCY5-related movement disorders are typically paroxysmal dyskinesia (PxDs) and/or static hyperkinetic movement disorders. Nocturnal paroxysmal dyskinesia (PxD), facial or perioral dyskinesia are suggestive of this genetic diagnosis. Next generation sequencing has enabled an expansion of the ADCY5- related phenotype. OBJECTIVE: The aim of our study was to report atypical phenotypes. RESULTS: We describe 13 patients from 8 different families, of which 10 had adolescent/adult-onset head and upper limb tremor followed by static cervical dystonia without PxD. We report three novel ADCY5 variants in these patients, located in the catalytic domains, close to previously reported variants. Caffeine was ineffective for the 3 patients who tried the treatment, and botulinum toxin therapy seemed to be the most effective treatment. We also describe 2 patients with spontaneous remission of pediatric-onset PxD before adulthood. CONCLUSION: We highlight an adolescent/adult-onset phenotype with head tremor and cervical dystonia, widening the genetic spectrum of cervical dystonia. Moreover, we broaden the pediatric ADCY5-PxD phenotype, highlighting previously unreported cases of spontaneous remission.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Adcy5 ; Atypical Phenotypes ; Cervical Dystonia ; Head Tremor ; Methylphenidate; Familial Dyskinesia
Sprache englisch
Veröffentlichungsjahr 2025
HGF-Berichtsjahr 2025
ISSN (print) / ISBN 1353-8020
e-ISSN 1873-5126
Zeitschrift Parkinsonism & Related Disorders
Quellenangaben Band: 132, Heft: , Seiten: , Artikelnummer: 107274 Supplement: ,
Verlag Elsevier
Verlagsort 125 London Wall, London, England
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
POF Topic(s) 30205 - Bioengineering and Digital Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-503200-001
Förderungen
Elivie
Merz-Pharma
Else Kroner- Fresenius-Stiftung
Technical University of Munich - Institute for Advanced Study
Free State of Bavaria under the Excellence Strategy of the Federal Government and the Lander
Federal Ministry of Education and Research (BMBF)
German Federal Ministry of Education and Research (BMBF, Bonn, Germany)
European Joint Programme on Rare Diseases (EJP RD Joint Transnational Call 2022)
DOI 10.1016/j.parkreldis.2025.107274
WOS ID 001423780300001
Scopus ID 85216704719
PubMed ID 39908726
Erfassungsdatum 2025-04-04
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