Scoping Review onADCY5‐Related Movement Disorders

Author:

Menon Poornima Jayadev12ORCID,Nilles Christelle3ORCID,Silveira‐Moriyama Laura4ORCID,Yuan Ruiyi1,de Gusmao Claudio M.45ORCID,Münchau Alexander6ORCID,Carecchio Miryam7,Grossman Steve8,Grossman Gay8,Méneret Aurélie1ORCID,Roze Emmanuel1,Pringsheim Tamara3ORCID

Affiliation:

1. Sorbonne University, APHP—Salpêtrière Hospital, CNRS, INSERM, Paris Brain Institute Paris France

2. School of Postgraduate Studies Royal College of Surgeons in Ireland Dublin Ireland

3. Department of Clinical Neurosciences University of Calgary Calgary AB Canada

4. Department of Neurology University of Campinas (UNICAMP) Campinas Brazil

5. Boston Children's Hospital Boston MA USA

6. Institute of Systems Motor Science University of Lübeck Lübeck Germany

7. Center for the Study of Neurodegeneration (CESNE) and Department of Neuroscience University of Padua Padua Italy

8. ADCY5.org San Diego CA USA

Abstract

ABSTRACTBackgroundAdenylyl cyclase 5 (ADCY5)‐related movement disorder (ADCY5‐RMD) is a rare, childhood‐onset disease resulting from pathogenic variants in theADCY5gene. The clinical features, diagnostic options, natural history, and treatments for this disease are poorly characterized and have never been established through a structured approach.ObjectiveThis scoping review attempts to summarize all available clinical literature on ADCY5‐RMD.MethodsEighty‐seven articles were selected for inclusion in this scoping review. The majority of articles identified were case reports or case series.ResultsThese articles demonstrate that patients with ADCY5‐RMD suffer from permanent and/ or paroxysmal hyperkinetic movements. The paroxysmal episodes can be worsened by environmental triggers, in particular the sleep–wake transition phase in the early morning. Occurrence of nocturnal paroxysmal dyskinesias and perioral twitches are highly suggestive of the diagnosis when present. In the majority of patients intellectual capacity is preserved. ADCY5‐RMD is considered a non‐progressive disorder, with inter‐individual variations in evolution with aging. Somatic mosaicism, mode of inheritance and the location of the mutation within the protein can influence phenotype.ConclusionsThe current evidence for therapeutic options for ADCY5‐RMD is limited: caffeine, benzodiazepines and deep brain stimulation have been consistently reported to be useful in case reports and case series.

Publisher

Wiley

Subject

Neurology (clinical),Neurology

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