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Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare genetic cause of… Click to show full abstract
Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare genetic cause of ALS. Herein, marked clinical heterogeneity of FAS in a pedigree with a known hnRNPA1 variant was described to raise early awareness of the ALS variant. Furtherly, a literature review of the hnRNPA1‐related spectrum was made to summarize the clinical and genetic characteristics.
Keywords:
review hnrnpa1;
clinical heterogeneity;
arm syndrome;
hnrnpa1 related;
hnrnpa1;
flail arm
Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2022
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Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!