Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterised by short stature, brachydactyly, joint stiffness, and characteristic eye anomalies including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma. Both autosomal recessive (AR) and autosomal dominant (AD) modes of inheritance have been described and a gene for AR WMS has recently been mapped to chromo...

Previous studies have suggested that Alzheimer's disease (AD) causes an accelerated shortening of telomeres, the ends of chromosomes consisting of highly conserved TTAGGG repeats that, because of unidirectional 5'-3' DNA synthesis, lose end point material with each cell division. Our own previous work suggested that telomere length of T-lymphocytes might be a remarkably accurate biomarker for "...

It has been proposed that features of Alzheimer-type dementia (AD) reflect a breakdown in cortical connectivity that can be likened to a disconnection syndrome. One hypothesized consequence of this pathology is that AD patients should be disproportionally impaired on measures of interhemispheric transfer. However, there is a paucity of studies bearing on this prediction. We report the results f...

BACKGROUND: Differential diagnosis between Frontotemporal Dementia (FTD), Corticobasal Syndrome (CBS), Progressive Supranuclear Palsy Syndrome (PSP), FTD with motor neuron disease (FTD-MND) is often challenging, because of the occurrence of atypical cases. Autopsy series have identified Alzheimer Disease (AD) pathology in a consistent percentage of patients with atypical dementias. It has been ...

Alzheimer's disease (AD) is a devastating syndrome that accounts for 60–70 % of all dementia cases, putting an enormous burden on global healthcare and economy. Unfortunately, there no cure AD, the currently approved drugs are limited in their effects. Given various pathological mechanisms behind “one-target, one-drug” paradigm drug design became obsolete, new paradigm, polypharmacology, emerge...

With great interest we read the recent paper by Arroyo and coworkers in Journal of Hepatology, which they propose that systemic inflammation plays a central role transition from compensated to decompensated cirrhosis, development acute decompensation acute-on-chronic liver failure (ACLF)[1]Arroyo V. Angeli P. Moreau R. Jalan Claria J. Trebicka et al.The hypothesis: towards new paradigm multiorg...

BACKGROUND The hexanucleotide repeat expansion in intron 1 of the C9orf72 gene is recognized as the most common genetic cause of frontotemporal dementia (FTD). There are overlapping clinical and pathological characteristics between FTD and Parkinsonism syndrome, and some FTD patients may present with Parkinsonism. The aim of this study was to analyze the hexanucleotide repeat numbers of C9orf72...

Cumulative evidence suggests that metabolic syndrome (MetS) may be important in the development of mild cognitive impairment, vascular dementia, and Alzheimer's disease (AD). As such, these patients might be described as having "metabolic-cognitive syndrome"--MetS plus cognitive impairment of degenerative or vascular origin. While peripheral insulin resistance appears to be of primary pathophys...

Traditional teaching subdivides the dementia syndrome into neurodegenerative Alzheimer’s disease (AD), vascular dementia (VaD), and mixed variants. In spite of the vast and continuing literature on the dichotomy between AD and VaD, new emerging concepts highlight the role of cardiovascular risk factors in the pathogenesis of AD, especially in older patients.1,2 Hypertension is the major player ...

BACKGROUND There is a close genetic relationship between Alzheimer's disease (AD) and Down syndrome (DS), AD being the most severe mental disorder affecting ageing individuals with DS. The objective of the present study was to evaluate the efficacy of cognitive rehabilitation interventions in DS patients with AD by means of a critical literature review. SUMMARY Because AD is progressive and i...