Related Experiment Video
Updated: May 16, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Paroxysmal Kinesigenic Gait Disorder in a 6-Year-Old Girl With N-α-Acetyltransferase 10 Related Syndrome (NAA10RS)
1Division of Neurology Department of Pediatrics, Hasbro Childrens Hospital, Providence, Rhode Island, USA.
Abstract:
A girl had been seen at 15 months of age for developmental expressive language and gross motor delays and had subsequent serially normal neurological evaluations until age 6 years when she developed a new abnormality of gait clinically similar to a paroxysmal kinesigenic dyskinesia for which she tested negative. Multiple maternal family members were known to have a pathogenetic variant in N-α-acetyltransferase 10 (NAA10) [c.235C>T (p.R79C)]. The appearance of a gait disorder in association with NAA10-related syndrome has not been previously described and expands the phenotype of this disorder to include this novel neurological symptom. The relevant literature of the very few cases of NAA10-related syndrome that include passing mention of any movement or gait abnormality is reviewed.
Related Concept Videos
Inborn Errors of Metabolism
Huntington Disease l: Introduction
Parkinson Disease l: Introduction
Parkinson Disease ll: Pathophysiology
Actin Polymerization and Cell Motility
Actin cytoskeleton dynamics can produce pushing, pulling, and resistance forces that help the cell to migrate.
Alterations in Muscle Tone ll

