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

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.