Cammalleri R, D'Amelio M, Gangitano M, Raimondo D, Rossetti M, Camarda R
Istituto di Neuropsichiatria Università degli Studi di Palermo.
Ital J Neurol Sci. 1994 Feb;15(1):57-60. doi: 10.1007/BF02343497.
Two cases of type I ACM are described, one of which presented with dizziness in late childhood (case 1), the other with mild intention tremor in adulthood (case 2). Cerebellar ectopia should be considered in monosymptomatic patients even in the absence of other symptoms and signs of C.N.S. dysfunction. Magnetic resonance imaging of the craniocervical junction should be performed because it may be diagnostic for type I ACM.
本文描述了两例I型常染色体显性遗传性小脑共济失调（ACMD）患者，其中一例在儿童晚期出现头晕症状（病例1），另一例在成年期出现轻度意向性震颤（病例2）。即使没有中枢神经系统功能障碍的其他症状和体征，对于单症状患者也应考虑小脑异位。应进行颅颈交界处的磁共振成像检查，因为它可能对I型ACMD具有诊断价值。
