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September 07, 2021; 97 (10) Resident & Fellow Section

Teaching Video NeuroImage: Paroxysmal Nocturnal Dyskinesias

A Characteristic Feature of ADCY5 Mutation

Tamara M. Pringsheim, Nicholas Cothros, Emmanuel Roze
First published April 7, 2021, DOI: https://doi.org/10.1212/WNL.0000000000011920
Tamara M. Pringsheim
From the Department of Clinical Neurosciences (T.M.P., N.C.), University of Calgary, Canada; and Department of Neurology (E.R.), Pitié-Salpêtrière Hospital, Sorbonne University and the Assistance Publique–Hôpitaux de Paris, France.
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Nicholas Cothros
From the Department of Clinical Neurosciences (T.M.P., N.C.), University of Calgary, Canada; and Department of Neurology (E.R.), Pitié-Salpêtrière Hospital, Sorbonne University and the Assistance Publique–Hôpitaux de Paris, France.
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Emmanuel Roze
From the Department of Clinical Neurosciences (T.M.P., N.C.), University of Calgary, Canada; and Department of Neurology (E.R.), Pitié-Salpêtrière Hospital, Sorbonne University and the Assistance Publique–Hôpitaux de Paris, France.
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Teaching Video NeuroImage: Paroxysmal Nocturnal Dyskinesias
A Characteristic Feature of ADCY5 Mutation
Tamara M. Pringsheim, Nicholas Cothros, Emmanuel Roze
Neurology Sep 2021, 97 (10) e1062; DOI: 10.1212/WNL.0000000000011920

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A 4-year-old girl with a history of axial hypotonia, delayed developmental motor milestones, and hyperkinetic movements presented with increasingly frequent episodes of paroxysmal nocturnal dyskinesia from 12 months of age (Video 1). Dyskinesias were also present intermittently during waking hours and appeared worse when she was upset or agitated. Ictal EEG performed during the daytime showed no electrographic seizure. The clinical manifestations were linked to a heterozygous c.1252C > T (p.R418W) pathogenic variant in the ADCY5 gene (RefSeq accession number NM_183,357). Nighttime videorecording or polysomnography may help to distinguish nocturnal dyskinesia from sleep-related hypermotor seizures and disorders of arousal. The presence of nocturnal dyskinesia should prompt the clinician to perform a molecular analysis of ADCY5.1 This is important for clinical practice as ADCY5-related paroxysmal dyskinetic episodes are disabling and can respond to caffeine or deep brain stimulation.2,3 This patient experienced a decrease in frequency of dyskinetic episodes with caffeine.

Video 1

Paroxysmal nocturnal bout of chorea and dystonia in a child with ADCY5-related dyskinesia.Download Supplementary Video 1 via http://dx.doi.org/10.1212/011920_Video_1

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The authors report no targeted funding.

Disclosure

The authors report no disclosures. Go to Neurology.org/N for full disclosures.

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  • Go to Neurology.org/N for full disclosures.

  • Teaching slides links.lww.com/WNL/B360

  • © 2021 American Academy of Neurology

References

  1. 1.↵
    1. Meneret A,
    2. Roze E,
    3. Maranci JB, et al
    . Sleep in ADCY5-related dyskinesia: prolonged awakenings caused by abnormal movements. J Clin Sleep Med. 2019;15(7):1021-1029.
    OpenUrl
  2. 2.↵
    1. Méneret A,
    2. Gras D,
    3. McGovern E,
    4. Roze E
    . Caffeine and the dyskinesia related to mutations in the ADCY5 gene. Ann Intern Med. 2019;171(6):439.
    OpenUrl
  3. 3.↵
    1. de Almeida Marcelino AL,
    2. Mainka T,
    3. Krause P,
    4. Poewe W,
    5. Ganos C,
    6. Kühn AA
    . Deep brain stimulation reduces (nocturnal) dyskinetic exacerbations in patients with ADCY5 mutation: a case series. J Neurol. 2020;267(12):3624-3631.
    OpenUrl

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