FUS as a cause of familial Amyotrophic lateral sclerosis, a case report in a pregnant patient

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.

KEYWORDS:

• Amyotrophic lateral sclerosis
• pregnancy
• FUS gene
• family
• motor neuron disease

Data availability statement

The data that support the findings of this study are available from the corresponding author, [LBR], upon reasonable request.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Statement of ethics

Informed consent for manuscript publication and photographs were obtained from the patient, and performed procedures were with the ethical standards.

Additional information

Funding

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.