Neurochemistry evaluated by MR spectroscopy in a patient with SPTAN1-related developmental and epileptic encephalopathy.
Developmental and epileptic encephalopathy
Exocytosis
Glutamate
Glutamine
MR spectroscopy
SPTAN1
α-Fodrin
Journal
Brain & development
ISSN: 1872-7131
Titre abrégé: Brain Dev
Pays: Netherlands
ID NLM: 7909235
Informations de publication
Date de publication:
Jun 2022
Jun 2022
Historique:
received:
04
10
2021
revised:
06
02
2022
accepted:
08
02
2022
pubmed:
28
2
2022
medline:
29
4
2022
entrez:
27
2
2022
Statut:
ppublish
Résumé
Mutation of the SPTAN1 gene, which encodes α-fodrin (non-erythrocyte α-II spectrin), is one of the causes of developmental and epileptic encephalopathies (DEEs). SPTAN1-related DEE is radiologically characterized by cerebral atrophy, especially due to white matter volume reduction, hypomyelination, pontocerebellar hypoplasia, and a thin corpus callosum, however, no neurochemical analysis has been reported. A Japanese infant female presented with severe psychomotor delay, tonic spasms, and visual impairment. Whole-exome sequencing revealed a de novo variant of the SPTAN1 gene, leading to a diagnosis of SPTAN1-related DEE. MR spectroscopy at ages 5 months, 11 months, and 1 year and 4 months revealed decreased N-acetylaspartate and choline-containing compounds, and increased glutamate or glutamine. The decreased concentrations of N-acetylaspartate and choline-containing compounds may have resulted from neuroaxonal network dysfunction and hypomyelination, respectively. The increased glutamate or glutamine may have reflected a disrupted glutamate-glutamine cycle caused by dysfunction of exocytosis, in which α-fodrin plays an important role. MR spectroscopy revealed neurochemical derangement in SPTAN1-related DEE, which may be a possible pathomechanism and will be useful for its diagnosis.
Sections du résumé
BACKGROUND
BACKGROUND
Mutation of the SPTAN1 gene, which encodes α-fodrin (non-erythrocyte α-II spectrin), is one of the causes of developmental and epileptic encephalopathies (DEEs). SPTAN1-related DEE is radiologically characterized by cerebral atrophy, especially due to white matter volume reduction, hypomyelination, pontocerebellar hypoplasia, and a thin corpus callosum, however, no neurochemical analysis has been reported.
CASE REPORT
METHODS
A Japanese infant female presented with severe psychomotor delay, tonic spasms, and visual impairment. Whole-exome sequencing revealed a de novo variant of the SPTAN1 gene, leading to a diagnosis of SPTAN1-related DEE. MR spectroscopy at ages 5 months, 11 months, and 1 year and 4 months revealed decreased N-acetylaspartate and choline-containing compounds, and increased glutamate or glutamine.
CONCLUSION
CONCLUSIONS
The decreased concentrations of N-acetylaspartate and choline-containing compounds may have resulted from neuroaxonal network dysfunction and hypomyelination, respectively. The increased glutamate or glutamine may have reflected a disrupted glutamate-glutamine cycle caused by dysfunction of exocytosis, in which α-fodrin plays an important role. MR spectroscopy revealed neurochemical derangement in SPTAN1-related DEE, which may be a possible pathomechanism and will be useful for its diagnosis.
Identifiants
pubmed: 35219564
pii: S0387-7604(22)00020-1
doi: 10.1016/j.braindev.2022.02.001
pii:
doi:
Substances chimiques
Glutamates
0
Glutamine
0RH81L854J
Choline
N91BDP6H0X
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
415-420Informations de copyright
Copyright © 2022 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.