Sporadic Amyotrophic Lateral Sclerosis Due to a FUS P525L Mutation with Asymmetric Muscle Weakness and Anti-ganglioside Antibodies.
FUS
P525L mutation
amyotrophic lateral sclerosis
anti-ganglioside antibody
fused in sarcoma
Journal
Internal medicine (Tokyo, Japan)
ISSN: 1349-7235
Titre abrégé: Intern Med
Pays: Japan
ID NLM: 9204241
Informations de publication
Date de publication:
15 Jun 2021
15 Jun 2021
Historique:
pubmed:
2
2
2021
medline:
22
6
2021
entrez:
1
2
2021
Statut:
ppublish
Résumé
Amyotrophic lateral sclerosis (ALS) due to a fused in sarcoma (FUS) P525L mutation is characterized by a rapidly progressive course. Multifocal motor neuropathy (MMN) may resemble ALS in early stage and is associated with anti-ganglioside antibodies. A 38-year-old woman was admitted to our hospital because of progressive muscle weakness in the right limbs. She had mild mental retardation and minor deformities. Initially, we suspected MMN given the asymmetric muscle weakness and detection of anti-ganglioside antibodies. However, physical and electrophysiological tests did not support MMN, instead suggesting ALS. We confirmed a heterozygous P525L mutation and finally diagnosed this case as ALS due to an FUS mutation.
Identifiants
pubmed: 33518565
doi: 10.2169/internalmedicine.6168-20
pmc: PMC8263198
doi:
Substances chimiques
FUS protein, human
0
Gangliosides
0
RNA-Binding Protein FUS
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1949-1953Références
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