open access publication

Article, 2023

Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss‐of‐function variant

Annals of Clinical and Translational Neurology, ISSN 2328-9503, Volume 10, 8, Pages 1493-1498, 10.1002/acn3.51838

Contributors

Gjerulfsen, Cathrine Elisabeth 0000-0002-3419-3133 [1] Mieszczanek, Tomasz Stanislaw [1] Johannesen, Katrine Marie Harries 0000-0002-7356-3109 [1] [2] Liao, Vivian Wan Yu 0000-0001-8608-0563 [3] Chebib, Mary Collins [3] Nørby, Helene A. J. [1] Gardella, Elena 0000-0002-7138-6022 [1] [4] Rubboli, Guido 0000-0002-5309-2514 [1] [5] Ahring, Philip Kiær 0000-0003-1807-3331 [3] Møller, Rikke Steensbjerre 0000-0002-9664-1448 (Corresponding author) [1] [4]

Affiliations

  1. [1] Filadelfia
    2. [NORA names: Filadelfia - Danish Epilepsy Hospital; Hospital; Denmark; Europe, EU; Nordic; OECD];
  2. [2] Rigshospitalet
    3. [NORA names: Capital Region of Denmark; Hospital; Denmark; Europe, EU; Nordic; OECD];
  3. [3] The University of Sydney
    4. [NORA names: Australia; Oceania; OECD];
  4. [4] University of Southern Denmark
    5. [NORA names: SDU University of Southern Denmark; University; Denmark; Europe, EU; Nordic; OECD];
  5. [5] University of Copenhagen
    6. [NORA names: KU University of Copenhagen; University; Denmark; Europe, EU; Nordic; OECD]

Abstract

Vinpocetine is a synthetic derivative of the alkaloid vincamine and has been used as a dietary supplement for decades. Following a positive report of the use of vinpocetine in a patient with a loss-of-function GABRB3 variant, we here describe another patient with a loss-of-function GABRA1 variant (p.(Arg112Gln)) who benefited from vinpocetine treatment. This patient was diagnosed with autism spectrum disorder, psychiatric complications, and therapy-resistant focal epilepsy. Upon add-on treatment with 40 mg vinpocetine daily for 16 months, the patient experienced an overall improved quality of life as well as seizure freedom. Our findings corroborate that vinpocetine can attenuate epilepsy-associated behavioral issues in patients with loss-of-function GABAA receptor gene variants.

Keywords

GABRA1, GABRA1 variants, GABRB3 variants, add-on treatment, alkaloid vincamine, alkaloids, autism, autism spectrum disorder, behavioral issues, complications, decades, derivatives, dietary supplements, disorders, epilepsy, epileptic outcome, findings, focal epilepsy, freedom, improve quality, improve quality of life, issues, life, loss-of-function variants, months, outcomes, patients, positive reports, psychiatric complications, quality of life, reports, seizure freedom, seizures, spectrum disorder, supplementation, synthetic derivatives, treatment, variants, vincamine, vinpocetine, vinpocetine treatment

Funders

  • National Health and Medical Research Council
  • Novo Nordisk Foundation

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