Expanding the clinical spectrum of adult-onset neuronal intranuclear inclusion disease.
GGC repeat expansions
NOTCH2NLC gene
Neuronal intranuclear inclusion disease
Skin biopsy
Journal
Acta neurologica Belgica
ISSN: 2240-2993
Titre abrégé: Acta Neurol Belg
Pays: Italy
ID NLM: 0247035
Informations de publication
Date de publication:
Jun 2022
Jun 2022
Historique:
received:
01
12
2020
accepted:
31
01
2021
pubmed:
25
2
2021
medline:
9
6
2022
entrez:
24
2
2021
Statut:
ppublish
Résumé
Neuronal intranuclear inclusion disease (NIID) is a heterogeneous neurodegenerative disease with multiple clinical subtypes. Recent breakthroughs on neuroimaging, skin biopsy and genetic testing have facilitated the diagnosis. We aim to investigate the clinical characteristics of Chinese NIID patients to further refine the spectrum. We analyzed the clinical features of 25 NIID patients from 24 unrelated families and performed skin biopsy and/or sural nerve biopsy on 24 probands. Repeat-primed PCR and fluorescence amplicon length PCR were conducted to detect GGC repeats of NOTCH2NLC. Onset age ranged from 24 to 72 years old, and the disease duration ranged from 12 h to 25 years with the mode of onset characterized as acute, recurrent or chronic progressive type. Tremor was a common phenotype, often observed in the early stages, next to dementia and paroxysmal encephalopathy. Symptoms infrequently reported such as oromandibular dystonia, recurrent vomiting, dizziness and headache of unknown origin, as well as pure peripheral neuropathy were also suggestive of NIID. Reversible leukoencephalopathy following encephalitic episodes and the absence of apparent DWI abnormality were noticed. Two genetically confirmed NIID patients failed to be identified intranuclear inclusions, and one patient was simultaneously found significant mitochondrial swelling and fingerprint profiles depositing in lysosomes. All the patients were identified abnormal GGC repeats of NOTCH2NLC. We identify some atypical clinicopathological features and consider that pathological examinations combined with genetic testing is the gold standard for diagnosis. Whether lysosomal and mitochondrial dysfunction is involved in the pathogenesis of NIID deserves further study.
Identifiants
pubmed: 33625684
doi: 10.1007/s13760-021-01622-4
pii: 10.1007/s13760-021-01622-4
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
647-658Subventions
Organisme : National Natural Science Foundation of China
ID : 81870889
Organisme : National Natural Science Foundation of China
ID : 82071258
Organisme : Key Technology Research and Development Program of Shandong
ID : 2017YFC1310200
Informations de copyright
© 2021. Belgian Neurological Society.
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