ABSTRACT
Dyke-Davidoff-Masson syndrome, or cerebral hemiatrophy, is a pre- or perinatally acquired entity characterized by predominantly neurologic symptoms, such as seizures, facial asymmetry, contralateral hemiplegia, and mental retardation. Psychiatric symptoms are rarely reported. We report the first case of left cerebral hemiatrophy and a late onset of treatment-resistant schizoaffective disorder after a stressful life event. The patient finally responded well to clozapine. The clinical history and results from structural neuroimaging are highlighted to discuss the possible developmental bias for psychotic disorders.
Subject(s)
Brain Diseases/complications , Brain/pathology , Clozapine/therapeutic use , Psychotic Disorders/drug therapy , Adult , Antipsychotic Agents/therapeutic use , Atrophy , Brain Diseases/pathology , Facial Asymmetry/pathology , Facial Asymmetry/physiopathology , Hemiplegia/pathology , Hemiplegia/physiopathology , Humans , Magnetic Resonance Imaging/methods , Male , Psychotic Disorders/etiology , Psychotic Disorders/physiopathology , Syndrome , Treatment OutcomeSubject(s)
Aging , Alzheimer Disease/genetics , Interleukin-1/genetics , Polymorphism, Genetic , Age of Onset , Association , Humans , Promoter Regions, GeneticABSTRACT
Interleukin (IL)-1 is a potent proinflammatory cytokine that is markedly overexpressed in the brains of patients with Alzheimer's disease (AD). The IL-1A [-889] allele 2 has been shown to increase AD risk, probably by upregulating the inflammatory cascade in the disease process. A case-control study utilizing a clinically well-defined group of 298 sporadic AD patients and 306 control subjects was performed to test this association. Our data show that the IL-1A allele 2 is a risk factor in a dose-dependent manner, the risk of developing AD with two copies of the IL-1A allele 2 (odds ratio 3.1, 95 % CI 1.30-7.45) being approximately double that of one copy of the IL-1A allele 2 (odds ratio 1.4, 95 % CI 0.99-1.94, P for trend = 0.0004). Furthermore, the risk associated with the IL-1A allele 2 was not restricted to AD patients of a particular age, and we could confirm this association in our early-onset and late-onset AD patients.
Subject(s)
Alleles , Alzheimer Disease/genetics , Gene Dosage , Interleukin-1/genetics , Polymorphism, Genetic/genetics , Aged , Aged, 80 and over , Case-Control Studies , Chi-Square Distribution , Confidence Intervals , Female , Humans , Male , Middle Aged , Odds RatioABSTRACT
Cathepsin D (catD) is an intracellular aspartyl protease that exhibits beta and gamma secretase-like activity to cleave amyloid precursor protein into beta amyloid peptide. The T-allele of a biallelic (alleles C and T) polymorphism in the exon 2 of the catD gene has been found to be associated with increased risk of Alzheimer disease (AD) in two independent German populations. Other groups have been unable to replicate this association in Caucasian American and Northern Ireland populations. Moreover, a small and no significant tendency for the T-allele to be protective for AD has been demonstrated in Caribbean Hispanics. A case control study utilizing a clinically well-defined group of 311 sporadic AD patients and 346 control subjects was performed to test this association in an ethnically homogeneous population from Spain. We did not observe any association between the T-allele of the catD gene and the disease. Furthermore, catD was not predictive of AD in an interactive fashion when considering apolipoprotein E, age, or gender.
