Hurdles in Diagnosis of Familial Amyotrophic Lateral Sclerosis with Anticipation Catastrophe across Three Generations: A Case Report

Abstract

Familial amyotrophic lateral sclerosis (F-ALS), a rare hereditary variant of ALS, is characterized by a genetic predisposition to the disease. In this case report, we reveal a compelling instance of F-ALS within a three-generation family, involving a grandfather, son, and grandson, all manifesting early-onset symptoms and progressive upper and lower motor neuron findings. The clinical diagnosis was confirmed through electromyography fulfilling El Escorial criteria of ALS. Our investigation highlights the familial connection in this case, emphasizing the hereditary aspect of ALS. This report underscores the significance of considering familial ALS in cases of successive generational involvement with early onset, a phenomenon called anticipation, shedding light on the necessity for further research to unravel the genetic basis by mutation analysis, which may have implications for future treatment.