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

Cathrine E. Gjerulfsen; Tomasz S. Mieszczanek; Katrine M. Johannesen; Vivian W.Y. Liao; Mary Chebib; Helene A.J. Nørby; Elena Gardella; Guido Rubboli; Philip Ahring; Rikke S. Møller

doi:10.1002/acn3.51838

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

Cathrine E. Gjerulfsen, Tomasz S. Mieszczanek, Katrine M. Johannesen, Vivian W.Y. Liao, Mary Chebib, Helene A.J. Nørby, Elena Gardella, Guido Rubboli, Philip Ahring, Rikke S. Møller^*

^*Kontaktforfatter

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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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 GABA_A receptor gene variants.

Originalsprog	Engelsk
Tidsskrift	Annals of Clinical and Translational Neurology
Vol/bind	10
Udgave nummer	8
Sider (fra-til)	1493-1498
ISSN	2328-9503
DOI	https://doi.org/10.1002/acn3.51838
Status	Udgivet - aug. 2023

Bibliografisk note

Funding Information:
The Australian National Health & Medical Research Council grant APP1185122 (PKA, VWYL, MC) and the Novo Nordisk foundation grant NNF 0058749 (RSM).

Publisher Copyright:
© 2023 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.

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10.1002/acn3.51838Licens: CC BY

Open Access VersionForlagets udgivne version, 1,88 MBLicens: CC BY

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Tjek adgangen til materialet i Syddansk Universitetsbiblioteks søgemaskine

Citationsformater

Gjerulfsen, C. E., Mieszczanek, T. S., Johannesen, K. M., Liao, V. W. Y., Chebib, M., Nørby, H. A. J., Gardella, E., Rubboli, G., Ahring, P., & Møller, R. S. (2023). Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss-of-function variant. Annals of Clinical and Translational Neurology, 10(8), 1493-1498. https://doi.org/10.1002/acn3.51838

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title = "Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss-of-function variant",

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 = "Autism Spectrum Disorder/drug therapy, Epilepsy/drug therapy, Humans, Quality of Life, Receptors, GABA-A/genetics, Vinca Alkaloids/pharmacology",

author = "Gjerulfsen, \{Cathrine E.\} and Mieszczanek, \{Tomasz S.\} and Johannesen, \{Katrine M.\} and Liao, \{Vivian W.Y.\} and Mary Chebib and N{\o}rby, \{Helene A.J.\} and Elena Gardella and Guido Rubboli and Philip Ahring and M{\o}ller, \{Rikke S.\}",

note = "Funding Information: The Australian National Health \& Medical Research Council grant APP1185122 (PKA, VWYL, MC) and the Novo Nordisk foundation grant NNF 0058749 (RSM). Publisher Copyright: {\textcopyright} 2023 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.",

year = "2023",

month = aug,

doi = "10.1002/acn3.51838",

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volume = "10",

pages = "1493--1498",

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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. et al.
I: Annals of Clinical and Translational Neurology, Bind 10, Nr. 8, 08.2023, s. 1493-1498.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

TY - JOUR

T1 - Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss-of-function variant

AU - Gjerulfsen, Cathrine E.

AU - Mieszczanek, Tomasz S.

AU - Johannesen, Katrine M.

AU - Liao, Vivian W.Y.

AU - Chebib, Mary

AU - Nørby, Helene A.J.

AU - Gardella, Elena

AU - Rubboli, Guido

AU - Ahring, Philip

AU - Møller, Rikke S.

N1 - Funding Information: The Australian National Health & Medical Research Council grant APP1185122 (PKA, VWYL, MC) and the Novo Nordisk foundation grant NNF 0058749 (RSM). Publisher Copyright: © 2023 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.

PY - 2023/8

Y1 - 2023/8

N2 - 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.

AB - 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.

KW - Autism Spectrum Disorder/drug therapy

KW - Epilepsy/drug therapy

KW - Humans

KW - Quality of Life

KW - Receptors, GABA-A/genetics

KW - Vinca Alkaloids/pharmacology

U2 - 10.1002/acn3.51838

DO - 10.1002/acn3.51838

M3 - Journal article

C2 - 37434477

AN - SCOPUS:85164785549

SN - 2328-9503

VL - 10

SP - 1493

EP - 1498

JO - Annals of Clinical and Translational Neurology

JF - Annals of Clinical and Translational Neurology

IS - 8

ER -

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

Abstract

Bibliografisk note

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