Le Ber I, Marié R-M, Lalevée C, Chabot B, Allouche S, Defer G L
Service de Neurologie Déjerine, CHU Côte de Nacre, Caen.
Rev Neurol (Paris). 2003 Jan;159(1):43-9.
Familial idiopathic basal ganglia calcification (FIBGC) is a rare condition and its pathophysiology has not so far been elucidated. We report the results of a clinical study in two patients of a family affected with FIBGC. Brain imaging with 18-FDG-PET was performed in one. Psychiatric and cognitive troubles were the main clinical symptoms. Basal ganglia calcifications were associated with white matter lesions. The PET study performed in one patient revealed a striatal and a posterior cingulate hypometabolism. Posterior cingulate gyrus is involved in episodic memory processing, and could be involved in episodic memory deficit observed in this patient. These results suggest that a cortical dysfunction could be associated to the disease. The underlying mechanism, that could be a neuronal loss, a cortical deafferentation or an alteration of synaptic transmission, remains to be elucidated.
家族性特发性基底节钙化（FIBGC）是一种罕见疾病，其病理生理学至今尚未阐明。我们报告了对一个患有FIBGC的家族中的两名患者进行临床研究的结果。对其中一名患者进行了18-FDG-PET脑成像检查。精神和认知障碍是主要临床症状。基底节钙化与白质病变相关。对一名患者进行的PET研究显示纹状体和后扣带回代谢减低。后扣带回参与情景记忆处理，可能与该患者观察到的情景记忆缺陷有关。这些结果表明皮层功能障碍可能与该疾病相关。其潜在机制，可能是神经元丢失、皮层传入缺失或突触传递改变，仍有待阐明。
