Paroxysmal Kinesigenic Gait Disorder in a 6‐Year‐Old Girl With N‐α‐Acetyltransferase 10 Related Syndrome ( NAA10RS ) Associated With c. 235C >T (p. R79C ): Expanding Phenotype

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.