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Identical twins with Idiopathic Basal Ganglia Calcification ('Fahr's Disease') presenting with a remarkably similar pattern of neuroimaging findings.

机译:具有特发性基底节钙化(“ Fahr's病”)的同卵双胞胎表现出非常相似的神经影像学表现。

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摘要

There is a growing interest in defining the genetic background of autosomally dominant inherited Familial Idiopathic Basal Ganglia Calcification (FIBGC), a neuropsychiatric condition often described as "Fahr's Disease" [1-3].However, the current debate about the nosology of this heterogeneous phenotype demands a search for standard diagnostic criteria and the identification of loci or mutations responsible for FIBGC that might help to elucidate this intriguing neuropsychiatric condition [4].
机译:人们对确定常染色体显性遗传的家族性特发性基底神经节钙化(FIBGC)的遗传背景的兴趣日益浓厚,这是一种神经精神病,通常被称为“法氏病” [1-3]。但是,当前关于这种异质性的疾病学的争论表型要求寻找标准的诊断标准,并鉴定出负责FIBGC的基因座或突变,这可能有助于阐明这种令人困扰的神经精神疾病[4]。

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