PLA2G6-associated neurodegeneration in four different populations-case series and literature review

Rana Hanna Al-Shaikh,Lukasz M Milanowski,Vikram V Holla,Kanako Kurihara,Ravi Yadav,Nitish Kamble,Babylakshmi Muthusamy,Anikha Bellad,Dariusz Koziorowski,Stanislaw Szlufik,Dorota Hoffman-Zacharska,Shinsuke Fujioka,Yoshio Tsuboi,Owen A Ross,Klaas Wierenga,Ryan J Uitti,Zbigniew Wszolek,Pramod Kumar Pal

Parkinsonism & Related Disorders（2022）

引用 3|浏览9

暂无评分

摘要

•Eleven newly described patients with PLA2G6 mutations from four different institutions around the globe.•PLAN is an autosomal recessive, heterogenous condition, that can occur during infancy, adolescence, or adulthood.•Genetic testing is the definitive form of diagnosis.•Findings on neuroimaging can include cerebellar atrophy and clava hypertrophy.

查看译文

关键词

Neurodegeneration with brain iron accumulation,Infantile neuroaxonal dystrophy,Atypical neuroaxonal dystrophy,Adult-onset dystonia parkinsonism,Phospholipase A2 group VI

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要