Neuronal intranuclear inclusion disease in New Zealand: A novel discovery.
J Neurol Sci
; 460: 122987, 2024 May 15.
Article
en 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 datos:
MEDLINE
Asunto principal:
Enfermedades Neurodegenerativas
/
Cuerpos de Inclusión Intranucleares
País/Región como asunto:
Oceania
Idioma:
En
Revista:
J Neurol Sci
Año:
2024
Tipo del documento:
Article