Molinuevo José L, Martí María J, Blesa Rafael, Tolosa Eduardo
Servei de Neurologia, ICMSN, Hospital Clínic i Universitari, Barcelona, Spain.
Mov Disord. 2003 Nov;18(11):1351-3. doi: 10.1002/mds.10520.
Two siblings were seen in our outpatient movement disorders clinic with an indolent clinical picture of a pure akinesia syndrome. Magnetic resonance showed the typical "eye of the tiger" sign, and genetic screening disclosed that both siblings were compound heterozygotes with two missense mutations in the PANK2 gene 734A-->G and 1172T-->C. This case report highlights the phenotypic diversity of Hallervorden Spatz syndrome and the need for further investigation of adult-onset pure akinesia syndromes.
我们的门诊运动障碍诊所接待了两名患有单纯运动不能综合征惰性临床表现的兄弟姐妹。磁共振成像显示典型的“虎眼征”,基因筛查发现这两名兄弟姐妹都是PANK2基因734A→G和1172T→C两个错义突变的复合杂合子。本病例报告强调了哈勒沃登-施帕茨综合征的表型多样性以及对成人起病的单纯运动不能综合征进行进一步研究的必要性。