Soliveri Paola, Rossi Giacomina, Monza Daniela, Tagliavini Fabrizio, Piacentini Sylvie, Albanese Alberto, Bugiani Orso, Girotti Floriano
Divisions of Neurology I, Istituto Neurologico Nazionale Carlo Besta, Milan, Italy.
Arch Neurol. 2003 Oct;60(10):1454-6. doi: 10.1001/archneur.60.10.1454.
Few cases of frontotemporal dementia parkinsonism (FTDP-17) have been described in the literature. To our knowledge, this is the first Italian case.
To report a case of FTDP linked to chromosome 17, exhibiting progressive supranuclear palsy on initial examination.
A 50-year-old woman had a 4-year history of behavior changes associated with slowly progressive mental decay and parkinsonism, with poor balance, supranuclear vertical gaze palsy, and bradykinesia. The symptoms were not responsive to dopaminergic therapy. Her father had died at age 46 years after a 7-year history of parkinsonism, and her brother, diagnosed as having progressive supranuclear palsy, died at age 45 years.
Magnetic resonance imaging showed mild midbrain atrophy, results of an electroencephalogram were normal, and cognitive evaluation showed moderate cognitive impairment, especially evident in the executive and attentional functions. Genetic testing revealed a tau gene mutation at codon 279 (AAT-->AAG) of exon 10.
Exon 10 mutations (including the N279K mutation) that result in overproduction of the tau isoform with 4 microtubule binding motifs seem to be associated with a mainly parkinsonian phenotype at disease onset.
文献中报道的额颞叶痴呆帕金森综合征（FTDP - 17）病例较少。据我们所知，这是首例意大利病例。
报告一例与17号染色体相关的FTDP病例，初诊时表现为进行性核上性麻痹。
一名50岁女性有4年行为改变病史，伴有缓慢进展的精神衰退和帕金森综合征，存在平衡能力差、核上性垂直凝视麻痹和运动迟缓。症状对多巴胺能治疗无反应。她的父亲在患帕金森综合征7年后于46岁去世，她的哥哥被诊断为进行性核上性麻痹，45岁去世。
磁共振成像显示中脑轻度萎缩，脑电图结果正常，认知评估显示中度认知障碍，尤其在执行和注意力功能方面明显。基因检测显示外显子10第279密码子（AAT→AAG）处的tau基因突变。
导致具有4个微管结合基序的tau异构体过量产生的外显子10突变（包括N279K突变）似乎在疾病发作时与主要的帕金森病表型相关。
