Klimkowicz-Mrowiec Aleksandra, Bodzioch M, Szczudlik A, Slowik A
Department of Neurology, Jagiellonian University School of Medicine, Botaniczna, Krakow, Poland
Department of Neurology, Jagiellonian University School of Medicine, Botaniczna, Krakow, Poland.
Am J Alzheimers Dis Other Demen. 2014 Dec;29(8):732-4. doi: 10.1177/1533317514536599. Epub 2014 Jun 6.
Mutations in the gene for presenilin 1 (PSEN-1) cause familial, early-onset Alzheimer's disease (EOAD). Diagnosis of EOAD is often a challenge because of the high frequency of atypical presentations. Clinical manifestation of EOAD may vary depending on underlying mutation; specific genetic mutations influence development of specific clinical phenotypes; however, intrafamilial phenotypic heterogeneity has also been noted in some pedigrees.
We report a case of a 36-year-old woman presenting with progressive behavioral disturbances, dementia, involuntary movements, pyramidal signs, epilepsy, and a family history of early-onset dementia accompanied by involuntary movements. On genetic testing, the mutation at codon 424 (Leu→Arg) in PSEN-1 gene was identified.
Our case describes a new phenotype of a known mutation of PSEN-1 at codon 424.
早老素1（PSEN - 1）基因的突变会导致家族性早发性阿尔茨海默病（EOAD）。由于非典型表现的高发生率，EOAD的诊断常常具有挑战性。EOAD的临床表现可能因潜在突变而异；特定的基因突变会影响特定临床表型的发展；然而，在一些家系中也观察到了家族内表型异质性。
我们报告了一例36岁女性病例，该患者表现为进行性行为障碍、痴呆、不自主运动、锥体束征、癫痫，且有早发性痴呆伴不自主运动的家族史。基因检测发现PSEN - 1基因第424密码子（Leu→Arg）发生突变。
我们的病例描述了PSEN - 1基因第424密码子已知突变的一种新表型。
