To the Editor:Neurodegeneration with brain iron accumulation (NBIA)comprises a group of disorders that manifest as early-or late-onset parkinsonism,dystonia,spasticity,and cognitive impairment, One subtype of NBIA,β-...To the Editor:Neurodegeneration with brain iron accumulation (NBIA)comprises a group of disorders that manifest as early-or late-onset parkinsonism,dystonia,spasticity,and cognitive impairment, One subtype of NBIA,β-propeller protein-associated neurodegeneration (BPAN),is caused by mutation of the WDR45 gene.To date,59 novel WDR45 mutations have been reported.The literature indicates that it is difficult to detect the disorder in early childhood because no specific clinical or imaging features exist. In this report,we describe the case of a 9-month-old male Chinese infant with a novel mutation (c.977-1 C >T)in the WDR45 gene.展开更多
文摘To the Editor:Neurodegeneration with brain iron accumulation (NBIA)comprises a group of disorders that manifest as early-or late-onset parkinsonism,dystonia,spasticity,and cognitive impairment, One subtype of NBIA,β-propeller protein-associated neurodegeneration (BPAN),is caused by mutation of the WDR45 gene.To date,59 novel WDR45 mutations have been reported.The literature indicates that it is difficult to detect the disorder in early childhood because no specific clinical or imaging features exist. In this report,we describe the case of a 9-month-old male Chinese infant with a novel mutation (c.977-1 C >T)in the WDR45 gene.
