Early onset hemichorea- parkinsonism with polg mutation without external ophthalmoplegia responsive to pallidal dbs

F. Garri, D. Calandrella,F. Del Sorbo, G. Sacilotto, M. Zini, C. Bolliri,V. Cereda, V. Ferri, M. Barichella, G. Pezzoli

PARKINSONISM & RELATED DISORDERS(2023)

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摘要
Background:POLG gene have been associated with a wide phenotypic spectrum, including parkinsonism, usually in combination with external ophthalmoplegia. We present a case of subacute onset of left hemichorea-parkinsonism with POLG mutation without external ophthalmoplegia, successfully treated with DBS.
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关键词
external ophthalmoplegia,polg mutation,hemichorea-parkinsonism
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