FUS as a cause of familial Amyotrophic lateral sclerosis, a case report in a pregnant patient.
Neurocase
; 28(3): 323-330, 2022 06.
Article
em En
| MEDLINE
| ID: mdl-35833217
ABSTRACT
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease. In 10% the disease is familial and rarely occurs in childbearing age women. A 28-year-old female pregnancy patient presented a two-month history of dropped head syndrome, dysphagia, muscle weakness, atrophy, and lingual wasting. Electromyography supported the diagnosis of ALS. Due to family history and background, we carried out molecular genetic testing. We identified a novel variant of uncertain significance:
c. 1566 G > C (p.Arg522Ser) in exon 15 in FUS gene. Our findings provide the first case of ALS onset during pregnancy with a novel mutation in FUS gene reported in Mexico.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doenças Neurodegenerativas
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Esclerose Lateral Amiotrófica
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
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Female
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Humans
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Pregnancy
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article