Cargando…

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

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Gjerulfsen, Cathrine E., Mieszczanek, Tomasz S., Johannesen, Katrine M., Liao, Vivian W. Y., Chebib, Mary, Nørby, Helene A. J., Gardella, Elena, Rubboli, Guido, Ahring, Philip, Møller, Rikke S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10424645/
https://www.ncbi.nlm.nih.gov/pubmed/37434477
http://dx.doi.org/10.1002/acn3.51838
_version_ 1785089708838092800
author Gjerulfsen, Cathrine E.
Mieszczanek, Tomasz S.
Johannesen, Katrine M.
Liao, Vivian W. Y.
Chebib, Mary
Nørby, Helene A. J.
Gardella, Elena
Rubboli, Guido
Ahring, Philip
Møller, Rikke S.
author_facet Gjerulfsen, Cathrine E.
Mieszczanek, Tomasz S.
Johannesen, Katrine M.
Liao, Vivian W. Y.
Chebib, Mary
Nørby, Helene A. J.
Gardella, Elena
Rubboli, Guido
Ahring, Philip
Møller, Rikke S.
author_sort Gjerulfsen, Cathrine E.
collection PubMed
description 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 GABA(A) receptor gene variants.
format Online
Article
Text
id pubmed-10424645
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-104246452023-08-15 Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss‐of‐function variant Gjerulfsen, Cathrine E. Mieszczanek, Tomasz S. Johannesen, Katrine M. Liao, Vivian W. Y. Chebib, Mary Nørby, Helene A. J. Gardella, Elena Rubboli, Guido Ahring, Philip Møller, Rikke S. Ann Clin Transl Neurol Case Study 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 GABA(A) receptor gene variants. John Wiley and Sons Inc. 2023-07-11 /pmc/articles/PMC10424645/ /pubmed/37434477 http://dx.doi.org/10.1002/acn3.51838 Text en © 2023 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Study
Gjerulfsen, Cathrine E.
Mieszczanek, Tomasz S.
Johannesen, Katrine M.
Liao, Vivian W. Y.
Chebib, Mary
Nørby, Helene A. J.
Gardella, Elena
Rubboli, Guido
Ahring, Philip
Møller, Rikke S.
Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss‐of‐function variant
title Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss‐of‐function variant
title_full Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss‐of‐function variant
title_fullStr Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss‐of‐function variant
title_full_unstemmed Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss‐of‐function variant
title_short Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss‐of‐function variant
title_sort vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a gabra1 loss‐of‐function variant
topic Case Study
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10424645/
https://www.ncbi.nlm.nih.gov/pubmed/37434477
http://dx.doi.org/10.1002/acn3.51838
work_keys_str_mv AT gjerulfsencathrinee vinpocetineimprovedneuropsychiatricandepilepticoutcomesinapatientwithagabra1lossoffunctionvariant
AT mieszczanektomaszs vinpocetineimprovedneuropsychiatricandepilepticoutcomesinapatientwithagabra1lossoffunctionvariant
AT johannesenkatrinem vinpocetineimprovedneuropsychiatricandepilepticoutcomesinapatientwithagabra1lossoffunctionvariant
AT liaovivianwy vinpocetineimprovedneuropsychiatricandepilepticoutcomesinapatientwithagabra1lossoffunctionvariant
AT chebibmary vinpocetineimprovedneuropsychiatricandepilepticoutcomesinapatientwithagabra1lossoffunctionvariant
AT nørbyheleneaj vinpocetineimprovedneuropsychiatricandepilepticoutcomesinapatientwithagabra1lossoffunctionvariant
AT gardellaelena vinpocetineimprovedneuropsychiatricandepilepticoutcomesinapatientwithagabra1lossoffunctionvariant
AT rubboliguido vinpocetineimprovedneuropsychiatricandepilepticoutcomesinapatientwithagabra1lossoffunctionvariant
AT ahringphilip vinpocetineimprovedneuropsychiatricandepilepticoutcomesinapatientwithagabra1lossoffunctionvariant
AT møllerrikkes vinpocetineimprovedneuropsychiatricandepilepticoutcomesinapatientwithagabra1lossoffunctionvariant