A 30-year history of MPAN case from Russia.

Clinical Neurology and Neurosurgery(2017)

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摘要
•We present a patient with a 30 years of undiagnosed complex movement disorder.•Detailed genetic analysis revealed an MPAN mutation.•Progressive spastic ataxia, neuropathy, dystonia and anarthria are the core features.•The case increases awareness of MPAN and highlights its worldwide distribution.•Highlighting the impact and cost saving of early genetic analysis in NBIA group.
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关键词
Spastic ataxia,C19orf12,TruSight panels,NBIA
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