Kufor-Rakeb Syndrome Due to a Novel ATP13A2 Mutation in 2 Chinese-American Brothers

Abstract

Kufor‐Rakeb Syndrome (KRS) is an autosomal recessive, juvenile‐onset Parkinson’s disease that has been reported in 11 kindreds. Mutations in ATP13A2, a Group 5 neuronal P‐type ATPase, lead to impairment of Mn²⁺ and Zn²⁺ metabolism, mitochondrial homeostasis, and lysosomal function. Patients with this disease present in adolescence with parkinsonism, pyramidal signs, dysarthria, dysphagia, and cognitive impairment. Brain imaging demonstrates cerebral and cerebellar atrophy. An early levodopa (l‐dopa) response can wane. Here, we report 2 Chinese‐American brothers with a novel mutation who presented with KRS.