Transcranial Magnetic Stimulation in Succinic Semialdehyde Dehydrogenase Deficiency: A Measure of Maturational Trajectory of Cortical Excitability.
Adolescent
Adult
Amino Acid Metabolism, Inborn Errors
/ physiopathology
Child
Cortical Excitability
/ physiology
Databases, Factual
Developmental Disabilities
/ physiopathology
Female
Humans
Male
Succinate-Semialdehyde Dehydrogenase
/ deficiency
Transcranial Magnetic Stimulation
/ methods
Young Adult
Succinic semialdehyde dehydrogenase deficiency (SSADHD)
cortical excitability
cortical silent period (CSP)
excitation: inhibition ratio
long interval intracortical inhibtion (LICI)
maturational trajectory
resting motor threshold (rMT)
transcranial magnetic stimulation (TMS)
Journal
Journal of child neurology
ISSN: 1708-8283
Titre abrégé: J Child Neurol
Pays: United States
ID NLM: 8606714
Informations de publication
Date de publication:
11 2021
11 2021
Historique:
pubmed:
2
6
2021
medline:
15
3
2022
entrez:
1
6
2021
Statut:
ppublish
Résumé
Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a disorder of GABA degradation with use-dependent downregulation of postsynaptic GABA In this single-center observational study, 18 subjects with SSADHD and 8 healthy controls underwent transcranial magnetic stimulation. Resting motor threshold, cortical silent period, and long-interval intracortical inhibition were measured in both groups. Resting motor threshold in focal epilepsy patients from an institutional transcranial magnetic stimulation database were also included. SSADHD subjects had higher resting motor threshold than healthy controls but lower relative to focal epilepsy patients. Resting motor threshold decreased with age in all groups. Cortical silent period was longer in SSADHD subjects than in healthy controls. No difference was detected in long-interval intracortical inhibition between the 2 groups. Findings suggest abnormal corticospinal tract physiology in SSADHD, but with preserved developmental trajectory for corticospinal tract maturation. Defining features of these transcranial magnetic stimulation metrics in SSADHD will be better elucidated through this ongoing longitudinal study.
Sections du résumé
BACKGROUND
Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a disorder of GABA degradation with use-dependent downregulation of postsynaptic GABA
METHODS
In this single-center observational study, 18 subjects with SSADHD and 8 healthy controls underwent transcranial magnetic stimulation. Resting motor threshold, cortical silent period, and long-interval intracortical inhibition were measured in both groups. Resting motor threshold in focal epilepsy patients from an institutional transcranial magnetic stimulation database were also included.
RESULTS
SSADHD subjects had higher resting motor threshold than healthy controls but lower relative to focal epilepsy patients. Resting motor threshold decreased with age in all groups. Cortical silent period was longer in SSADHD subjects than in healthy controls. No difference was detected in long-interval intracortical inhibition between the 2 groups.
CONCLUSION
Findings suggest abnormal corticospinal tract physiology in SSADHD, but with preserved developmental trajectory for corticospinal tract maturation. Defining features of these transcranial magnetic stimulation metrics in SSADHD will be better elucidated through this ongoing longitudinal study.
Identifiants
pubmed: 34058900
doi: 10.1177/08830738211008735
pmc: PMC8630082
mid: NIHMS1686399
doi:
Substances chimiques
Succinate-Semialdehyde Dehydrogenase
EC 1.2.1.24
Types de publication
Journal Article
Observational Study
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1169-1176Subventions
Organisme : NICHD NIH HHS
ID : P50 HD105351
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD091142
Pays : United States