Multimodal Evoked Potential Profiles in Woodhouse-Sakati Syndrome.
Alopecia
Arrhythmias, Cardiac
Basal Ganglia Diseases
/ genetics
Diabetes Mellitus
Evoked Potentials
/ physiology
Evoked Potentials, Auditory
Evoked Potentials, Somatosensory
/ physiology
Evoked Potentials, Visual
Humans
Hypogonadism
/ genetics
Intellectual Disability
/ genetics
Nuclear Proteins
/ genetics
Ubiquitin-Protein Ligase Complexes
/ genetics
Journal
Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society
ISSN: 1537-1603
Titre abrégé: J Clin Neurophysiol
Pays: United States
ID NLM: 8506708
Informations de publication
Date de publication:
01 09 2022
01 09 2022
Historique:
pubmed:
9
1
2021
medline:
8
9
2022
entrez:
8
1
2021
Statut:
ppublish
Résumé
Woodhouse-Sakati syndrome is a rare autosomal recessive syndrome caused by homozygous mutations in the DCAF17 gene, characterized by marked neurologic and endocrine manifestations in the setting of brain iron accumulation and white matter lesions on neuroimaging. Here, we report electrophysiologic profiles in Woodhouse-Sakati syndrome and their possible value in understanding disease pathophysiology and phenotypic variability. Thirteen genetically confirmed Woodhouse-Sakati syndrome patients were evaluated via different evoked potential (EP) modalities, including brainstem auditory EPs, pattern reversal visual EPs, and somatosensory EPs to tibial and/or median nerves. All EP modalities showed variable abnormalities. Pattern reversal visual EPs were recorded in all patients, with nine patients exhibiting abnormal results. From those, seven patients showed prolonged P100 latencies after stimulation of right and left eyes for each in turn. Two patients showed P100 latency abnormality after single eye stimulation recorded from midoccipital electrode. Median somatosensory EPs were recorded in 10 patients, with 6 patients having a prolonged cortical N19 response. Tibial somatosensory EP was performed for 11 patients, and 8 patients showed abnormal results where P37 cortical response was absent or prolonged, whereas peripheral potentials at the popliteal fossa were normal. Brainstem auditory EPs were abnormal only in two patients, with prolonged wave III and V latencies. Five patients with hearing impairment presented with normal brainstem auditory EP results. Multiple EP abnormalities are observed in Woodhouse-Sakati syndrome patients, mainly in pattern reversal visual EPs and somatosensory EPs. These findings indicate potential myelin dysfunction that has a role in the underlying pathophysiology, disease course, and phenotypic variability.
Identifiants
pubmed: 33417382
doi: 10.1097/WNP.0000000000000811
pii: 00004691-202209000-00012
doi:
Substances chimiques
DCAF17 protein, human
0
Nuclear Proteins
0
Ubiquitin-Protein Ligase Complexes
EC 2.3.2.23
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
504-509Informations de copyright
Copyright © 2020 by the American Clinical Neurophysiology Society.
Déclaration de conflit d'intérêts
The authors have no funding or conflicts of interest to disclose.
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