Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs.

Antipsychotics (APDs) represent the main pharmacological strategy in the treatment of schizophrenia; however, their administration often may result in severe adverse effects, such as extrapyramidal symptoms. Typically, dystonic movements are considered the result of impaired function and/or abnormalities of dopaminergic neurotransmission/signaling in the basal ganglia. The catechol O-methyltransferase (COMT) gene is located within the 22q11.

Novel compound heterozygous mutation in gene cause Niemann-Pick disease type C with juvenile onset.

Niemann-Pick disease type C (NPC) is a progressive lysosomal storage disorder caused by mutations in the (in 95% of cases) or (in ~5% of cases) genes, inherited in an autosomal recessive manner. We report the case of a 38-year-old woman with learning disorder from her first year of schooling, and could notice slow progressed cognitive impairment, social withdrawal, apathy, handwriting alterations, deterioration of language skills and dysphagia. Brain magnetic resonance imaging showed severe cerebellar atrophy, hypoplasia of the corpus callosum, asymmetric lateral ventricular enlargement, and severe enlargement of frontal and parietal subarachnoid spaces.

Diagnostic and interventional implications of telemedicine in Alzheimer's disease and mild cognitive impairment: A literature review.

Introduction: Worldwide, life expectancy, and aging-related disorders as mild cognitive impairment (MCI) and Alzheimer disease (AD) are increasing, having a rising impact on patients' quality of life and caregivers' distress. Telemedicine offers many possibilities, such as remote diagnosing and monitoring of patients.

Objective: The purpose of this study is to provide a narrative synthesis of the literature about the implementation of telemedicine for diagnosis, treatment, and follow-up of patients with AD and MCI and their caregivers.