Neuronal intranuclear inclusion disease in New Zealand: A novel discovery

被引：1

作者：

Zhang, Tony ^{[1
,7
]}

Chancellor, Andrew ^{[2
]}

Liem, Bernard ^{[1
]}

Turner, Clinton ^{[3
]}

Hutchinson, David ^{[1
]}

Wong, Edward ^{[1
]}

Glamuzina, Emma ^{[4
]}

Hong, Jae Beom ^{[1
]}

Cleland, James

Child, Nicholas ^{[1
]}

Roxburgh, Richard H. ^{[1
]}

Patel, Shilpan ^{[1
]}

Lee, Yi-Chung ^{[5
,6
]}

Liao, Yi-Chu ^{[5
,6
]}

Anderson, Neil E. ^{[1
]}

机构：

[1] Auckland City Hosp, Dept Neurol, Auckland, New Zealand

[2] Tauranga Hosp, New Zealand Te Whatu Ora Hauora Toi, Bay of Plenty, New Zealand

[3] Auckland City Hosp, Dept Anat Pathol & Cytol, Auckland, New Zealand

[4] Auckland City Hosp, Adult & Paediat Metab Serv, Auckland, New Zealand

[5] Taipei Vet Gen Hosp, Neurol Inst, Dept Neurol, Taipei, Taiwan

[6] Natl Yang Ming Chiao Tung Univ, Brain Res Ctr, Dept Neurol, Taipei, Taiwan

[7] Auckland City Hosp, 2 Pk Rd, Auckland 1023, New Zealand

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2024年 / 460卷

关键词：

Neuronal intranuclear inclusion disease; Founder effect; New Zealand;

D O I：

10.1016/j.jns.2024.122987

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 Ma<overline>ori and one Cook Island Ma<overline>ori). Phenotypically, they resemble cases reported from recent large East Asian cohorts.

引用

页数：6

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