A Novel Mutation of
Alexander disease
GFAP-glial fibrillary acidic protein
adult onset
gene mutation
leukodystrophy
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2019
2019
Historique:
received:
18
06
2019
accepted:
08
10
2019
entrez:
30
11
2019
pubmed:
30
11
2019
medline:
30
11
2019
Statut:
epublish
Résumé
Alexander disease (AxD) is a rare, autosomal dominant neurological disorder. Three clinical subtypes are distinguished based on age at onset: infantile (0-2 years), juvenile (2-13 years), and adult (>13 years). The three forms differ in symptoms and prognosis. Rapid neurological decline with a fatal course characterizes the early-onset forms, while symptoms are milder and survival is longer in the adult forms. Currently, the sole known cause of AxD is mutations in the
Identifiants
pubmed: 31781017
doi: 10.3389/fneur.2019.01124
pmc: PMC6851058
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1124Informations de copyright
Copyright © 2019 Ciammola, Sangalli, Sassone, Poletti, Carelli, Banfi, Pappacoda, Ceccherini, Grossi, Maderna, Pingue, Girotti and Silani.
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