Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation.
Journal
Journal of human genetics
ISSN: 1435-232X
Titre abrégé: J Hum Genet
Pays: England
ID NLM: 9808008
Informations de publication
Date de publication:
Oct 2021
Oct 2021
Historique:
received:
10
01
2021
accepted:
17
03
2021
revised:
05
03
2021
pubmed:
1
4
2021
medline:
20
1
2022
entrez:
31
3
2021
Statut:
ppublish
Résumé
Monoallelic mutations on TMEM63A have been recently reported as cause of a previously unrecognized disorder named "infantile-onset transient hypomyelination". Clinical and neuroradiological presentation is described as highly similar to Pelizaeus-Merzbacher Disease but evolution over time was surprisingly benign with a progressive spontaneous improving course. We report on a new TMEM63A-mutated girl. The clinical picture was similar to the one already described except for the presence of recurrent episodes of unilateral eyelid twitching, and for the evidence of spinal cord involvement on MRI. These are interesting findings helping in distinguishing this condition from classic PMD since early disease stages. However, additional observations are needed to confirm if these are common features of this condition.
Identifiants
pubmed: 33785861
doi: 10.1038/s10038-021-00921-1
pii: 10.1038/s10038-021-00921-1
doi:
Substances chimiques
Membrane Proteins
0
Myelin Proteolipid Protein
0
TMEM63A protein, human
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1035-1037Informations de copyright
© 2021. The Author(s), under exclusive licence to The Japan Society of Human Genetics.
Références
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