23.03.2024 | Correspondence
Amyotrophic Lateral Sclerosis due to ALS2 Pathogenic Variant Masquerading as Cerebral Palsy: Authors’ Reply
verfasst von:
Vykuntaraju K. Gowda, Sharath Babu, Uddhava Kinhal, Varunvenkat M. Srinivasan
Erschienen in:
Indian Journal of Pediatrics
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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. …
