Early-Onset Stargardt DiseaseStanley LambertusRamon A.C. van HuetNathalie M. BaxLies H. HoefslootFrans P.M. CremersCamiel J.F. BoonB. Jeroen KleveringCarel B. Hoyng
帕金森病(Parkinson Disease, PD)于1817年由英国医生James Parkinson首先描述,是一种缓慢进展的神经系统变性疾病,多见于中老年人。部分患者发病时年龄较小,称为早发性帕金森病(early-onset Parkinson Disease, EOPD),具有与典型PD不同的特点。Tanner等...
Early-onset Alzheimer's disease (EOAD) is a disorder with a dominantly inherited form, listed as being of significance for insurance by the Association of British Insurers. Mutations in the Presenilin-1 (PSEN-1) gene are responsible for a large proportion of cases. Gui & Macdonald (2002) ...
For a majority of late-onset AD patients, causal factors are still unknown. Currently, there are no early detectable biomarkers for late-onset AD, and there is a lack of understanding of AD pathophysiology, particularly at the early stages of disease progression, before pathology develops. Human...
Early-onset Alzheimer's Disease An elderly woman with Alzheimer's disease plays with intellectual toys at a nursing home in Chaoyang District, Beijing, June 17, 2015. (PHOTO:VCG) By Staff Reporters A team led by Jia Jianping, of the Innovation Center for Neurological Disorders at the ...
Follow-up observations were made of 92 white patients with early-onset Alzheimer's disease to determine the demographic, clinical, and neuropsychological factors predictive of institutionalization or death. The cumulative mortality rate 5 years after entry into the study was 23.9%, compared with an ex...
Mutations in the presenilin-1 gene (PS-1 gene) on chromosome 14 have recently been identified as a cause of familial early-onset Alzheimer's disease (EOAD). To our knowledge, only two German EOAD patients with mutations in the PS-1 gene have been identified thus far. Herein we report ...
Mutations in the presenilin 1 (PS1) gene are responsible for approximately 50% of early onset autosomal-dominant Alzheimer's disease cases. A PCR based mutation detection method, chemical cleavage of mismatch, was used to detect a novel PS1 mutation in the coding sequence of the PS1 gene. Sequ...
People who develop Alzheimer’s disease before age 65 are said to have “early-onset” or “young-onset” disease. Overall, about 5-6% of Alzheimer’s patients have early-onset disease. Alzheimer’s is a progressive neurodegenerative disorder that causes dementia. Most people who develop ...
As the discovery of the Alzheimer's disease (AD) genes, APP, PSEN1, and PSEN2, in families with autosomal dominant early-onset AD (EOAD), gene discovery in familial EOAD came more or less to a standstill. Only 5% of EOAD patients are carrying a pathogenic mutation in one of the AD ...