New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients.

Parkinsonism & Related Disorders(2017)

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摘要
•Aceruloplasminemia in Caucasians presents with a wide range of movement disorders.•Parkinsonism is a major feature, together with cerebellar ataxia and dyskinesia.•In addition to cognitive decline, psychiatric changes are associated with the disease.•Cognitive- or psychiatric changes may be the first neurological manifestations.
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关键词
Aceruloplasminemia,Neurological manifestations,Psychiatric changes,Phenotypic variability
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