Kufor-Rakeb syndrome caused by ATP13A2 gene mutation:a case report and literature review
Objective To report a case of Kufor-Rakeb syndrome caused by novel ATP13A2 mutation,collect the cases related to ATP13A2 gene mutation published in recent years,summarize the clinical manifestations of the disease,and broaden the clinical diagnostic thinking.Methods The clinical manifestations of a newly diagnosed patient with Kufor-Rakeb syndrome caused by ATP13A2 gene mutation admitted to Zhongda Hospital,Southeast University on November 26,2021,were summarized.The related cases of ATP13A2 mutation published from January 2000 to December 2021 were searched through the PubMed and CNK1 databases using the keywords"ATP13A2"and"Parkinson's disease".The onset age,clinical symptoms,family history,genetic testing,and levodopa responsiveness results of the patients were collected.Results The patient is a 52-year-old female with the main clinical symptoms of static tremor and bradykinesia.Physical examination showed a gear like increase in muscle tension in the right upper limb,involuntary shaking of the right hand and slow movement.She had good responsiveness to levodopa,and the magnetic resonance imaging and susceptibility weighted imaging of the head showed a lack of clear observation of bilateral black matter swallowtail sign.Whole exome sequencing showed that mutations c.3010A＞G(p.S1004G)and c.1195+5G＞A(splice)were found in the ATP13A2 gene,both of which were not reported.The c.3010A＞G(p.S1004G)mutation originated from the mother,and the c.1195+5G＞A(splice)mutation originated from the father.In the retrospective literature review,a total of 10 cases were collected,with onset ages ranging from 18 months to 24 years.Among them,4/10 patients'parents married close relatives,and the clinical manifestations were mainly motor symptoms of Parkinson's disease.In addition,5/10 patients had cognitive dysfunction,and 3/10 patients had mental symptoms.And demonstrations of most patients'magnetic resonance imaging were normal in the early stage of the disease,and as the disease progressed,some patients'imaging results showed specific changes,such as whole brain atrophy and changes in the corpus callosum.Meanwhile,8/10 patients showed good responsiveness to levodopa.Conclusions Kufor-Rakeb syndrome is a special type of adolescent levodopa responsive Parkinson's disease caused by ATP13A2 mutation,which is an autosomal recessive disorder.In addition to motor symptoms such as static tremor and bradykinesia,its clinical manifestations may also be accompanied by non motor symptoms such as cognitive and psychiatric disorders.The disease responds well to treatment with levodopa.
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