Amyotrophic Lateral Sclerosis due to ALS2 Pathogenic Variant Masquerading as Cerebral Palsy: Authors’ Reply

Excerpt

To the Editor: We appreciate Finsterer J. for critical review and comments on our article published in IJP [1]. Regarding queries raised by the author [2], we would like to highlight our case. The phenotypes associated with ALS2 variants can be following: Juvenile onset Amyotrophic lateral sclerosis (ALS) type 2 (OMIM#205100), Juvenile primary lateral sclerosis (OMIM#606353) and Infantile onset ascending spastic paraparesis (OMIM#607225) [3]. The clinical features of the above three phenotypes are overlapping as all of them come under the group of Motor Neuron disorders. Even though the gene causes 3 phenotypes, our case had ALS phenotype as there were signs of denervation on electromyography, hence reporting as ALS. …