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Expansion of the phenotype in ALS19

Context: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects the upper and lower motor neurons. Most cases are sporadic, being 5-10% familial. Currently, more than 20 genes are described as causing familial ALS, with C9ORF72 and SOD1 the most common. Case report: Woman, 42 years old, with progressive weakness in her left foot for 3 years evolving with difficulty walking. No family history. Neurological exam(NE): asymmetric stepagge gait. Asymmetric proximal, distal and axial muscle weakness and distal atrophy. Hyperactive reflexes. EMG: pre-ganglionic lesion in lower limbs with active denervation. Brain MRI: high signal intensity on left corticospinal tract. ALS genetic panel: c.3878G> A, heterozygois in ErbB4(OMIM* 600543). CASE 2: Female, 55 years old, with parkinsonism for 2 years, evolving with muscle weakness, myalgia, dysphonia and dysphagia. After 7 months, respiratory failure and death. Family history: ALS and atypical parkinsonism. NE: Global amyotrophy, facial hypomimia, dropped head, fasciculations on the tongue. Bradykinesia. Plastic hypertonia in the 4 limbs. Proximal and distal weakness. Babinski sign on the right. Oculomotor apraxia. Dysarthrophonia. EMG: pre-ganglionic lesion in the 4 limbs. Brain MRI: global cortical atrophy with temporal predominance. Exome: pathogenic variant, in heterozygosis c. 2428G>A in ErbB4. Conclusion: There are only 3 cases reported in the literature associated to pathogenic variants in this gene. We suggest an expansion of the clinical phenotype for ALS19.