Neuronal intranuclear inclusion disease in New Zealand: A novel discovery
Journal of the Neurological Sciences(2024)
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 Māori and one Cook Island Māori). Phenotypically, they resemble cases reported from recent large East Asian cohorts.
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关键词
Neuronal intranuclear inclusion disease,Founder effect,New Zealand
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