Neuronal intranuclear inclusion disease in New Zealand: A novel discovery.

Founder effect Neuronal intranuclear inclusion disease New Zealand

Journal

Journal of the neurological sciences
ISSN: 1878-5883
Titre abrégé: J Neurol Sci
Pays: Netherlands
ID NLM: 0375403

Informations de publication

Date de publication:
03 Apr 2024
Historique:
received: 16 01 2024
revised: 24 02 2024
accepted: 31 03 2024
medline: 6 4 2024
pubmed: 6 4 2024
entrez: 5 4 2024
Statut: aheadofprint

Résumé

Neuronal intranuclear inclusion disease, caused by a GGC repeat expansion in the 5'-untranslated region of NOTCH2NLC, is a rare neurodegenerative condition with highly variable clinical manifestations. In recent years, the number of reported cases have increased dramatically in East Asia. We report the first four genetically confirmed cases of neuronal intranuclear inclusion disease in New Zealand, all having Polynesian ancestry (three New Zealand Māori and one Cook Island Māori). Phenotypically, they resemble cases reported from recent large East Asian cohorts.

Identifiants

DOI: 10.1016/j.jns.2024.122987 PMID: 38579412
pubmed: 38579412
pii: S0022-510X(24)00122-9
doi: 10.1016/j.jns.2024.122987
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

122987

Informations de copyright

Copyright © 2024 Elsevier B.V. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of competing interest None.

Auteurs

Tony Zhang (T)

Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand. Electronic address: tonyz@adhb.govt.nz.

Andrew Chancellor (A)

Tauranga Hospital, New Zealand Te Whatu Ora Hauora a Toi, Bay of Plenty, New Zealand.

Bernard Liem (B)

Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand.

Clinton Turner (C)

Department of Anatomical Pathology and Cytology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand.

David Hutchinson (D)

Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand.

Edward Wong (E)

Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand.

Emma Glamuzina (E)

Adult and Paediatric Metabolic Service, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand.

Jae Beom Hong (JB)

Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand.

James Cleland (J)

Department of Anatomical Pathology and Cytology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand.

Nicholas Child (N)

Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand.

Richard H Roxburgh (RH)

Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand.

Shilpan Patel (S)

Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand.

Yi-Chung Lee (YC)

Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan; Department of Neurology and Brain Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan.

Yi-Chu Liao (YC)

Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan; Department of Neurology and Brain Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan.

Neil E Anderson (NE)

Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand.

Classifications MeSH