Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1-related spectrum.

ABSTRACT:

Objective

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.

Methods

Detailed clinical evaluation, muscle pathology, and whole-exome sequencing were performed. The sequence and co-segregation of the mutation among the family members were confirmed by Sanger sequencing.

Results

The great clinical variability was found in a FAS pedigree. Muscle

SUBMITTER: Han X 

PROVIDER: S-EPMC9735363 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature