0000000000338423
AUTHOR
N. Settipani
A novel mutation (Thr116IIe) in the presenilin 1 gene in a patient with early-onset Alzheimer's disease
We report a novel presenilin 1 (PSN1) mutation (Thr116Ile) in a woman with early onset Alzheimer's disease (AD). This mutation was not found in 100 healthy controls, indicating that this is not a common polymorphism. The patient presented with forgetfulness at age 45, followed over the next 3 years by a worsening of the memory loss and frequent episodes of confusion and spatial disorientation. Neuroimaging studies were consistent with AD. The analysis of the family's pedigree showed that the proband was apparently the only member affected. Because the early death of several close relatives (i.e. the mother and the grandmother) and the demonstration that the father is not a mutation carrier,…
Cognitive impairment in patients suffering from relapsing-remitting multiple sclerosis with EDSS ≤ 3.5
Objectives – Previous papers have mainly demonstrated the presence and the frequency of cognitive impairment in patients suffering from relapsing-remitting multiple sclerosis. The purpose of this study was to investigate subjects with the relapsing-remitting form of the disease and mild clinical disability (EDSS ≤ 3.5), so as to quantify this deficit when the illness does not yet interfere with daily living and the ability to work. Methods – Fifty patients and 50 healthy controls were submitted to a wide neuropsychological battery, including Wechsler Memory Scale – I- (WMS), Benton Visual Retention Test – D- (BVRT), Raven Coloured Progressive Matrices (RCPM), Kohs’ test (KT), Judgement of L…