Neuronal intranuclear inclusion disease in New Zealand: A novel discovery

Tony Zhang; Andrew Chancellor; Bernard Liem; Clinton Turner; David Hutchinson; Edward Wong; Emma Glamuzina; Jae Beom Hong; James Cleland; Nicholas Child; Richard H Roxburgh; Shilpan Patel; Yi-Chung Lee; Yi-Chu Liao; Neil E Anderson

doi:10.1016/j.jns.2024.122987

Neuronal intranuclear inclusion disease in New Zealand: A novel discovery

J Neurol Sci. 2024 Apr 3:460:122987. doi: 10.1016/j.jns.2024.122987. Online ahead of print.

Authors

Affiliations

¹ Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand. Electronic address: tonyz@adhb.govt.nz.
² Tauranga Hospital, New Zealand Te Whatu Ora Hauora a Toi, Bay of Plenty, New Zealand.
³ Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand.
⁴ Department of Anatomical Pathology and Cytology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand.
⁵ Adult and Paediatric Metabolic Service, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand.
⁶ 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.

PMID: 38579412
DOI: 10.1016/j.jns.2024.122987

Abstract

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.

Keywords: Founder effect; Neuronal intranuclear inclusion disease; New Zealand.