Neuronal intranuclear inclusion disease.

COGNITION COGNITIVE NEUROPSYCHOLOGY GENETICS NEUROGENETICS NEURORADIOLOGY

Journal

Practical neurology
ISSN: 1474-7766
Titre abrégé: Pract Neurol
Pays: England
ID NLM: 101130961

Informations de publication

Date de publication:
Jun 2023
Historique:
accepted: 22 01 2023
medline: 29 5 2023
pubmed: 23 2 2023
entrez: 22 2 2023
Statut: ppublish

Résumé

Neuronal intranuclear inclusion disease is a rare genetic condition, previously diagnosed only at postmortem, but its characteristic radiological features now allow its diagnosis in life. The clinical presentation is variable and we hope this case report will raise awareness of this condition.

Identifiants

pubmed: 36808080
pii: pn-2022-003582
doi: 10.1136/pn-2022-003582
doi:

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

246-248

Informations de copyright

© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Jia Rui Kwan (JR)

General Medicine, Sengkang General Hospital, Singapore.

Wai Lun Moy (WL)

General Medicine, Sengkang General Hospital, Singapore moy.wai.lun@singhealth.com.sg.

Kaavya Narasimhalu (K)

Neurology, National Neuroscience Institute, Singapore.

Kok Pin Yong (KP)

Neurology, National Neuroscience Institute, Singapore.

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Classifications MeSH