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Neuronal intranuclear inclusion disease in New Zealand: A novel discovery.
Zhang, Tony; Chancellor, Andrew; Liem, Bernard; Turner, Clinton; Hutchinson, David; Wong, Edward; Glamuzina, Emma; Hong, Jae Beom; Cleland, James; Child, Nicholas; Roxburgh, Richard H; Patel, Shilpan; Lee, Yi-Chung; Liao, Yi-Chu; Anderson, Neil E.
Afiliação
  • Zhang T; Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand. Electronic address: tonyz@adhb.govt.nz.
  • Chancellor A; Tauranga Hospital, New Zealand Te Whatu Ora Hauora a Toi, Bay of Plenty, New Zealand.
  • Liem B; Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand.
  • Turner C; Department of Anatomical Pathology and Cytology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand.
  • Hutchinson D; Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand.
  • Wong E; Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand.
  • Glamuzina E; Adult and Paediatric Metabolic Service, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand.
  • Hong JB; Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand.
  • Cleland J; Tauranga Hospital, New Zealand Te Whatu Ora Hauora a Toi, Bay of Plenty, New Zealand.
  • Child N; Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand.
  • Roxburgh RH; Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand.
  • Patel S; Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand.
  • 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.
  • 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.
  • Anderson NE; Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand.
J Neurol Sci ; 460: 122987, 2024 May 15.
Article em En | MEDLINE | ID: mdl-38579412
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 Maori and one Cook Island Maori). Phenotypically, they resemble cases reported from recent large East Asian cohorts.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Neurodegenerativas / Corpos de Inclusão Intranuclear Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Neurodegenerativas / Corpos de Inclusão Intranuclear Idioma: En Ano de publicação: 2024 Tipo de documento: Article