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Neuroscience and Biobehavioral Reviews Sep 2015The variant amyloid deposits (VAD) include cotton wool plaques and diffuse plaques, which are associated with various motor deficits (e.g. spastic paraparesis,... (Review)
Review
BACKGROUND
The variant amyloid deposits (VAD) include cotton wool plaques and diffuse plaques, which are associated with various motor deficits (e.g. spastic paraparesis, myoclonus, parkinsonism and ataxia). VADs have been repeatedly identified in presenilin 1 (PSEN1) mutations. It is still unknown the effect of VAD on the motor deficits as well as on the course of Alzheimer's disease (AD).
METHODS
We conducted a systematic review of the literature using MEDLINE, AD&FTDMDB and China National Knowledge Infrastructure database.
RESULTS
A total of 46 studies on 84 patients were included. We found that the odds ratio of the motor deficits in the VAD group (56 patients) was 4.231 times of the non-VAD group (28 patients). Moreover, VAD group displayed older age of onset (42.80±9.12 years) and longer duration (9.05±4.75 years) of the diseases.
CONCLUSIONS
These results suggested that the VADs might be associated with the increased occurrence of the motor deficits. Moreover, the VADs might act as a protective modifier of the disease course of AD.
Topics: Alzheimer Disease; Databases, Factual; Humans; Movement Disorders; Mutation; Plaque, Amyloid; Presenilin-1
PubMed: 26165445
DOI: 10.1016/j.neubiorev.2015.07.003 -
Neuroscience and Biobehavioral Reviews May 2014Familial Alzheimer's disease (FAD), despite representing a rare condition, is attracting a growing interest in the scientific community. Improved phenotyping of FAD... (Review)
Review
Familial Alzheimer's disease (FAD), despite representing a rare condition, is attracting a growing interest in the scientific community. Improved phenotyping of FAD cases may have a relevant impact both in clinical and research contexts. We performed a systematic review of studies describing the phenotypic features of FAD cases sustained by PSEN2 mutations, the less common cause of monogenic AD. Special attention was given to the clinical manifestations as well as to the main findings coming from the most commonly and widely adopted diagnostic procedures. Basing on the collected data, we also attempted to conduct a genotype-phenotype correlation analysis. Overall, the mutations involving the PSEN2 gene represent an extremely rare cause of FAD, having been reported to date in less than 200 cases. They are mainly associated, despite some peculiar and heterogeneous features, to a typical AD phenotype. Nevertheless, the frequent occurrence of psychotic symptoms may represent a potential distinctive element. The scarcity of available phenotypic descriptions strongly limits the implementation of genotype-phenotype correlations.
Topics: Alzheimer Disease; Family; Genetic Association Studies; Humans; Mutation; Phenotype; Presenilin-2
PubMed: 24594196
DOI: 10.1016/j.neubiorev.2014.02.010