TY -的T1 -广泛的患者颅内钙化小说聚合酶gamma 1突变JF -神经学乔-神经病学SP - 197 LP - 198 - 10.1212 / WNL。首页0 b013e31829a3438六世- 81 - 2非盟-克里斯托Sidiropoulos盟-埃琳娜·莫罗盟-安东尼·e·朗Y1 - 2013/07/09 UR - //www.ez-admanager.com/content/81/2/197.ab首页stract N2 -一个55岁的女人呈现给我们的中心几乎终生震颤、行动与周围神经病变有关,进步感音神经性听力损失,以及强烈的震颤的家族史。CT of the brain was notable for extensive intracranial calcifications, much more prominent in the dentate nucleus, cerebellar hemispheres, and midpons, compared to the globus pallidus (figure 1). T1-weighted MRI demonstrated hypointense signal in the aforementioned areas (figure 2). Polymerase gamma-1 (POLG1) gene analysis revealed a novel heterozygous sequence variant at c3239G > c; p.Ser1080Thr. Similar diffuse intracranial calcification can be seen in a variety of disorders including idiopathic basal ganglia calcifications and spinocerebellar ataxia 20.1 Mitochondrial disorders2 are a well-recognized cause; however, to our knowledge this is the first time that such extensive intracranial calcium deposits have been described in a patient with a POLG1 mutation. ER -