Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystonia.
作者信息
Quazza Floriane, Riant Florence, Patera Martina, Suppa Antonio, Satolli Sara, Burglen Lydie, Zech Michael, Boesch Sylvia, Indelicato Elisabetta, Hainque Elodie, Apartis Emmanuelle, Rodriguez Diana, Doummar Diane, Méneret Aurélie, Ravelli Claudia
机构信息
Service De Neurologie Pédiatrique, Centre De Référence De Neurogénétique, Hôpital Armand Trousseau AP-HP, Sorbonne Université, Fhu I2-D2, France.
Service de Génétique Moléculaire Neurovasculaire, AP-HP, Hôpital Saint Louis, Paris, France.
出版信息
Parkinsonism Relat Disord. 2025 Mar;132:107274. doi: 10.1016/j.parkreldis.2025.107274. Epub 2025 Jan 21.
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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