[Fronto-temporal dementia and parkinsonism linked to chromosome 17 (FTDP-17): clinical criteria].
[Fronto-temporal dementia and parkinsonism linked to chromosome 17 (FTDP-17): clinical criteria].
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[与 17 号染色体相关的额颞叶痴呆和帕金森病 (FTDP-17)：临床标准]。
DOI：
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发表时间：
2003
影响因子：
2.9
通讯作者：
M. Barcikowska
中科院分区：
文献类型：
--
作者：
Z. Wszolek;A. Krygowska;M. Barcikowska
与17号染色体相关的额颞叶痴呆和帕金森综合征（FTDP-17）是一种先天性中枢神经系统退行性疾病。分子遗传学研究表明，tau蛋白基因存在26种不同的突变。目前已知有61个家族患有这种综合征。本文提出的临床标准是根据作者自己的研究以及对文献的详细回顾而制定的。标准包括：--临床症状：人格和行为障碍，帕金森综合征对左旋多巴治疗相当耐药，较少发生的还有语言障碍和癫痫，--疾病的早期发作和快速进展，--阳性家族史，--同一家族内患者之间和具有相同突变的家族之间临床症状的异质性，--临床表现的异质性取决于突变类型。虽然FTDP-17是一种极其罕见的临床综合征，但它在世界各地都受到关注。在波兰，还没有人被诊断出患有这种疾病。本文的目的是让读者熟悉神经病学和神经外科波兰与FTDP-17。该综合征极大地促进了我们对许多散发性脑退行性疾病的发病机制的理解，包括阿尔茨海默病、皮克病、Steel-Richardson-Olszewski综合征、皮质基底节变性等常见疾病。毫无疑问，对FTDP-17的进一步研究将有助于成功治疗这些破坏性的中枢神经系统退行性疾病。
Frontotemporal dementia and Parkinsonism linked to chromosome 17 (FTDP-17) is a congenital degenerative disease of the central nervous system. Molecular genetics studies have indicated the presence of 26 various mutations of the tau protein gene. At present 61 families with this syndrome are known. The clinical criteria proposed in this paper were developed on the grounds of the author's own research as well as detailed review of the literature. The criteria include;--clinical symptoms: personality and behavior disorders, Parkinsonism rather resistant to treatment with Levodopa less frequently also speech disorders and epilepsy,--an early onset and rapid progression of the disease,--positive family history,--heterogeneity of clinical symptoms both among patients within the same family and among families with the same mutation,--heterogeneity of the clinical picture depending on the type of mutation. Although FTDP-17 is and extremely rare clinical syndrome, it is noted all over the world. In Poland nobody has been diagnosed with this condition yet. The aim of this paper is to acquaint the readers of Neurologia i Neurochirurgia Polska with the FTDP-17. The syndrome has considerably contributed to our understanding of pathogenesis of many sporadic degenerative diseases of the brain, including such frequent conditions as Alzheimer's disease, Pick's disease the the Steel-Richardson-Olszewski syndrome, corticobasal degeneration, and other ones. Undoubtedly further research into the FTDP-17 will contribute to the development of a successful treatment for these devastating degenerative diseases of the c.n.s.