Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study.

Marta Manes,Antonella Alberici,Eleonora Di Gregorio,Loredana Boccone,Enrico Premi,Nico Mitro,Maria Pia Pasolini, Claudia Pani,Barbara Paghera,Laura Orsi,Chiara Costanzi,Marta Ferrero,Filippo Tempia,Donatella Caruso,Alessando Padovani,Alfredo Brusco,Barbara Borroni

Parkinsonism & Related Disorders（2019）

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摘要

•Spinocerebellar Ataxia 38 (SCA38) is caused by mutations within ELOVL5 gene, which encodes an enzyme involved in the metabolism of very long fatty acids.•In this open label extension clinical trial we evaluated the long-term safety and efficacy of oral docosahexaenoic acid (DHA) supplementation.•DHA replacement therapy is an effective long-term treatment in SCA38.

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关键词

Spinocerebellar ataxia 38 (SCA38),Cerebellum,Ataxia,Docosahexaenoic acid (DHA),Clinical trial

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