Saiki Misuzu, Saiki Shinji, Sakai Koichiro, Matsunari Ichiro, Higashi Kotaro, Murata Ken-Ya, Hattori Nobutaka, Hirose Genjiro
Department of Neurology, Kanazawa Medical University, Ishikawa, Japan.
Mov Disord. 2007 May 15;22(7):1027-30. doi: 10.1002/mds.21438.
We report two familial cases of idiopathic basal ganglia calcification. A 60-year-old proband with choreoathetosis, dysarthria, and cognitive decline showed more extensive brain calcinosis, hypoperfusion, and hypometabolism than did his asymptomatic 82-year-old mother. The mother had no frontal lobe calcinosis but basal ganglia and dentate nucleus depositions were detectable. Perfusion neuroimaging, however, was normal in the asymptomatic mother and abnormal in the clinically impaired proband. The presence of calcinosis cannot be used as an index of neurological impairment but the extent of calcinosis and reduction in perfusion and metabolism may be useful for separating symptomatic from asymptomatic subjects with IBGC. These findings suggest that an interruption of neuronal circuitry may cause neurological deficits. The degree of neurological deficits may correlate with the severity of calcinosis and the reduction of perfusion and metabolism.
我们报告了两例家族性特发性基底节钙化病例。一名患有舞蹈手足徐动症、构音障碍和认知衰退的60岁先证者，其脑钙化、灌注不足和代谢减低程度比他无症状的82岁母亲更为广泛。母亲没有额叶钙化，但基底节和齿状核有钙化沉积。然而，无症状的母亲灌注神经影像学检查正常，而临床受损的先证者则异常。钙化的存在不能作为神经功能损害的指标，但钙化程度以及灌注和代谢的降低可能有助于区分有症状和无症状的特发性基底节钙化患者。这些发现表明，神经元回路的中断可能导致神经功能缺损。神经功能缺损的程度可能与钙化的严重程度以及灌注和代谢的降低相关。
