Neuronal intranuclear inclusion disease in New Zealand: A novel discovery.
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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Base de dados:
MEDLINE
Assunto principal:
Doenças Neurodegenerativas
/
Corpos de Inclusão Intranuclear
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article