دورية أكاديمية
أعرض في EDS

Neurophysiological and brain structural insights into cyclin-dependent kinase-like 5 deficiency disorder: Visual and auditory evoked potentials and MRI analysis.

التفاصيل البيبلوغرافية
العنوان: Neurophysiological and brain structural insights into cyclin-dependent kinase-like 5 deficiency disorder: Visual and auditory evoked potentials and MRI analysis.
المؤلفون: Takeguchi R; Department of Pediatrics, Asahikawa Medical University, Hokkaido 078-8510, Japan. Electronic address: takeguchi5p@asahikawa-med.ac.jp., Akaba Y; Department of Pediatrics, Asahikawa Medical University, Hokkaido 078-8510, Japan., Kuroda M; Department of Pediatrics, Asahikawa Medical University, Hokkaido 078-8510, Japan., Tanaka R; Department of Pediatrics, Asahikawa Medical University, Hokkaido 078-8510, Japan., Tanaka T; Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo 113-0033, Japan., Itoh M; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan., Takahashi S; Department of Pediatrics, Asahikawa Medical University, Hokkaido 078-8510, Japan.
المصدر: Journal of the neurological sciences [J Neurol Sci] 2024 Jun 15; Vol. 461, pp. 123063. Date of Electronic Publication: 2024 May 24.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5883 (Electronic) Linking ISSN: 0022510X NLM ISO Abbreviation: J Neurol Sci Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Amsterdam : Elsevier, <19 ->
مواضيع طبية MeSH: Evoked Potentials, Visual*/physiology , Magnetic Resonance Imaging* , Spasms, Infantile*/diagnostic imaging , Spasms, Infantile*/physiopathology , Brain*/diagnostic imaging , Brain*/physiopathology , Diffusion Tensor Imaging* , Evoked Potentials, Auditory, Brain Stem*/physiology, Humans ; Male ; Female ; Child ; Epileptic Syndromes/diagnostic imaging ; Epileptic Syndromes/physiopathology ; Epileptic Syndromes/genetics ; Child, Preschool ; Adolescent ; Evoked Potentials, Auditory/physiology ; Hearing Loss, Central/physiopathology ; Hearing Loss, Central/diagnostic imaging ; Severity of Illness Index ; Adult ; Protein Serine-Threonine Kinases/genetics ; Young Adult
مستخلص: Objective: CDKL5 deficiency disorder (CDD), an epileptic encephalopathy for which novel therapeutics are under development, lacks valid and reliable measures of therapeutic efficacy. We aimed to elucidate the neurophysiological and brain structural features of CDD patients and identify objective indicators reflecting the clinical severity.
Methods: Twelve CDD patients and 12 healthy controls (HCs) participated. The clinical severity of CDD was scored using the CDD severity assessment (CDD-SA). The participants underwent visual evoked potential (VEP), auditory brainstem response (ABR), structural MRI, and diffusion tensor imaging (DTI) analyses. Measurements from each modality were compared with normal values of age-matched cohorts (VEP and ABR) or statistically compared between CDD patients and HCs (MRI).
Results: VEP showed a significant correlation between P100 latency and CDD-SA in CDD patients. ABR showed abnormalities in six patients (50%), including prolonged V-wave latency (n = 2), prolonged inter-peak latency between waves I and V (n = 3), and mild hearing loss (n = 4). Structural MRI showed a significant reduction in cortical volume in the left pars triangularis and right cerebellum compared with HCs. DTI showed a widespread decrease in fractional anisotropy and an increase in mean and radial diffusivity compared with HCs.
Conclusion: CDD patients had reduced cortical volume in the left pars triangularis, a brain region crucial for speech, and one-third of patients had mild hearing loss. These changes may be involved in language impairments in CDD patients. Additionally, P100 latency significantly correlated with the clinical severity. These features can be used to assess the clinical severity of CDD.
Competing Interests: Declaration of competing interest The authors declare no competing interests.
(Copyright © 2024. Published by Elsevier B.V.)
فهرسة مساهمة: Keywords: Auditory brainstem response; Biomarkers; CDKL5 deficiency disorder; Diffusion tensor imaging; Structural MRI; Visual evoked potential
المشرفين على المادة: EC 2.7.11.1 (Protein Serine-Threonine Kinases)
SCR Disease Name: CDKL5 deficiency disorder
تواريخ الأحداث: Date Created: 20240531 Date Completed: 20240611 Latest Revision: 20240621
رمز التحديث: 20240621
DOI: 10.1016/j.jns.2024.123063
PMID: 38820769
قاعدة البيانات: MEDLINE
الوصف
تدمد:1878-5883
DOI:10.1016/j.jns.2024.123063