Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability.

ABSTRACT:

Background

Alternating of Childhood (AHC) is an uncommon and complex disorder characterized by age of onset before 18 months with recurrent hemiplegia of one or either sides of the body or quadriplegia. The disorder is mainly caused by mutations in ATP1A3 gene, and to a lesser extent in ATP1A2 gene. In AHC neurological co-morbidities are various and frequently reported including developmental delay, epilepsy, tonic or dystonic spells, nystagmus,autonomic manifestations with intrafamilial variability.

Case presentation

Clinical and genetic findings of a couple of twins (Family 1: Case 1 and Case 2) and a couple of siblings (Family 2: Case 3 and Case 4) coming from two different Italian families affected by AHC were deeply examined. In twins of Family 1, a pathogenic variant i

SUBMITTER: Pavone P 

PROVIDER: S-EPMC8851838 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature