Boller F, Boller M, Gilbert J
J Neurol Neurosurg Psychiatry. 1977 Mar;40(3):280-5. doi: 10.1136/jnnp.40.3.280.
Nine members of a family spanning three generations showed bilateral calcifications of the basal ganglia with autosomal dominant inheritance. Two members developed chorea, dementia, and a characteristic speech disturbance (palialalia) in the third or fourth decade. A third member possibly shows the initial stage of a similar syndrome. Six members with calcifications but without neurological signs are younger than 25 years. All nine patients had normal calcium and phosphorus, and no evidence of endocrinological or somatic abnormalities. Thie 'isiopathic' picture must be differentiated from hypoparathyroidism and pseudohypoparathyroidism.
一个三代同堂的家族中有9名成员表现出双侧基底神经节钙化,呈常染色体显性遗传。两名成员在第三或第四个十年出现了舞蹈症、痴呆和一种特征性的言语障碍(模仿言语)。第三名成员可能表现出类似综合征的初始阶段。六名有钙化但无神经体征的成员年龄小于25岁。所有9名患者的钙和磷水平均正常,且没有内分泌或躯体异常的证据。这种“特发性”表现必须与甲状旁腺功能减退症和假性甲状旁腺功能减退症相鉴别。