Fred Ovsiew

A rare mutation of CACNA1C in a patient with bipolar disorder, and decreased gene expression associated with a bipolar-associated common SNP of CACNA1C in brain.

Timothy Syndrome (TS) is caused by very rare exonic mutations of the CACNA1C gene that produce delayed inactivation of Cav1.2 voltage-gated calcium channels during cellular action potentials, with greatly increased influx of calcium into the activated cells. The major clinical feature of this syndrome is a long QT interval that results in cardiac arrhythmias. However, TS also includes cognitive impairment, autism and major developmental delays in many of the patients. We observed the appearance of bipolar disorder (BD) in a patient with a previously reported case of TS, who is one of the very few patients to survive childhood. This is most interesting because the common single-nucleotide polymorphism (SNP) most highly associated with BD is rs1006737, which we show here is a cis-expression quantitative trait locus for CACNA1C in human cerebellum, and the risk allele (A) is associated with decreased expression. To combine the CACNA1C perturbations in the presence of BD in this patient and in patients with the common CACNA1C SNP risk allele, we would propose that either increase or decrease in calcium influx in excitable cells can be associated with BD. In treatment of BD with calcium channel blocking drugs, we would predict better response in patients without the risk allele, because they have increased CACNA1C expression.

The Relationship Between Schizophrenia and Frontotemporal Dementia

Schizophrenia is a relatively common disorder diagnosed by the presentation of psychotic symptoms in the absence of identifiable neurologic or other organic cause. Frontotemporal dementia (FTD) is a relatively rare progressive neurodegenerative disorder that can present with a multitude of cognitive and behavioral symptoms including psychosis. At times, this phenotypic overlap can mean that schizophrenia and FTD are 2 possibilities in the differential diagnosis of a psychotic presentation. In this article, we systematically review the literature on the relationship between schizophrenia and FTD including case reports that highlight the potential for diagnostic confusion, clinical studies examining the relationship between the disorders, and the molecular evidence of shared pathophysiologic mechanisms. Although a relationship between the disorders is not definitively supported by the current literature, we identify the characteristics of a psychotic presentation that should alert the clinician to the possibility of FTD and describe the areas where further research is needed to clarify the pathophysiologic relationship.

The Zeitraffer phenomenon, akinetopsia, and the visual perception of speed of motion: A case report

The Zeitraffer phenomenon is the altered perception of the speed of moving objects. A single case is reported using the subject’s own description of a transient alteration of the visual perception of motion. The literature on the subject is reviewed. The Zeitraffer phenomenon probably arises from dysfunction of brain networks subserving visual perception of speed. It shares characteristics with akinetopsia, the loss of visual ability to perceive motion.

Hysteria in Neurological Practice

The Somatoform and Dissociative Disorders* of the fourth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSMIV) are the current representation of a disease known of old, hysteria; they amount to “hysteria split asunder,” as one of the leaders of the nosological revolution in contemporary psychiatry put it (2). Although the current diagnostic formulation is arguably a pale reflection of previous conceptualizations (the argument is made below), the disorder is certainly still a clinical presence. It has, as Sir Aubrey Lewis said, “outlive [d] its obituarists” (3). In this chapter, I set the scene for understanding neurological presentations of Somatoform and Dissociative Disorders by pointing to a historical moment in the development of the understanding of hysteria; provide a review of the current diagnostic categories and describe the clinical features of patients fitting into those categories, with greatest emphasis on Conversion Disorder because of its importance in neurological practice; offer a summary of the known risk factors for somatization, as well as describing the limited information available on its neurobiology; and provide a set of recommendations for clinical management by the physician not specializing in psychological medicine.

Computed Tomography and Psychiatric Disorders

Excerpt To the editor: The recent papers by Larson and colleagues (1) on the cost effectiveness of computed tomography (CT) scanning in psychiatric patients is in the good company of many similar s...