Neuronal intranuclear inclusion disease is genetically heterogeneous.
Ann Clin Transl Neurol
; 7(9): 1716-1725, 2020 09.
Article
en En
| MEDLINE
| ID: mdl-32777174
ABSTRACT
Neuronal intranuclear inclusion disease (NIID) is a clinically heterogeneous neurodegenerative condition characterized by pathological intranuclear eosinophilic inclusions. A CGG repeat expansion in NOTCH2NLC was recently identified to be associated with NIID in patients of Japanese descent. We screened pathologically confirmed European NIID, cases of neurodegenerative disease with intranuclear inclusions and applied in silico-based screening using whole-genome sequencing data from 20 536 participants in the 100 000 Genomes Project. We identified a single European case harbouring the pathogenic repeat expansion with a distinct haplotype structure. Thus, we propose new diagnostic criteria as European NIID represents a distinct disease entity from East Asian cases.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedades Neurodegenerativas
/
Receptor Notch2
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Adult
/
Female
/
Humans
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Male
/
Middle aged
País/Región como asunto:
Europa
Idioma:
En
Revista:
Ann Clin Transl Neurol
Año:
2020
Tipo del documento:
Article
País de afiliación:
Reino Unido