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.

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.

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.

Psychiatric aspects of epilepsy.

Patients who have epilepsy face many challenges resulting from their illness and have frequent psychiatric comorbidities. Recognition of these disorders is increasing and is having a positive impact on patients' quality of life. Recent recommendations about a new classification system for psychiatric disorders related specifically to epilepsy and based on the relationship of symptoms to seizures, antiepileptic medications, and EEG changes should further research and treatment.

The three cognitive examinations.

Cognitive dysfunction is a core feature of neuropsychiatric illness. We offer a framework or conceptualizing cognitive function and discuss bedside examination and neuropsychological assessment, as well as the limitations of these tools. We stress the clinical importance of executive cognitive dysfunction, and we provide guidance or its assessment.

Verapamil for severe hyperkinetic movement disorders.

The use of verapamil in three cases of severe hyperkinetic movement disorders resulted in dramatic improvement in patients who had been refractory to many other treatments over a prolonged period. A videotape illustration of one of the patients is provided. The mechanism of action and evidence of efficacy of calcium-channel blockers for abnormal movements are discussed.

Erotomania in a brain-damaged male.

A 31-year-old male presented to a neuropsychiatric service for the first time with an erotomatic delusion among other symptoms. He had suffered significant brain damage several times in the past and experienced a recent loss. After extensive evaluation, a trial of haloperidol resulted in some improvement.

Clinical and genetic studies of fatal familial insomnia.

We report a 42-year-old man who, for 8 months, had intermittent motor abnormalities and mild difficulty falling asleep. A diagnosis of fatal familial insomnia (FFI) became evident over the next 6 months when he developed progressive insomnia, myoclonus, sympathetic hyperactivity, and dementia. The amyloid or prion protein (PrP) genotype showed features typically seen in FFI, with a 178Asn mutation and a 129Met polymorphism.

Leuprolide acetate for exhibitionism in Huntington's disease.

We treated a patient with Huntington's disease and exhibitionism using leuprolide acetate (Lupron Depot, TAP Pharmaceuticals), a gonadotropin-releasing hormone agonist. The result was elimination of his deviant sexual behavior with few side effects. This regimen may be a safe and effective pharmacological treatment of the paraphilias.

Treatment of persistent myoclonic tardive dystonia with verapamil.

A dramatic improvement in a patient with tardive dystonia was obtained with verapamil after the failure of other medicines. The use of verapamil or other calcium-channel blockers should be considered when treating drug-induced movement disorders.

Schizophrenia and atypical motor features in a case of progressive supranuclear palsy (the Steele-Richardson-Olszewski syndrome).

Mental manifestations are characteristic of the syndrome described by Steele, Richardson, and Olszewski as progressive supranuclear palsy (SRO). Discussions emphasize cognitive aspects, namely the "subcortical dementia" for which the disease is prototypical, but personality change has been mentioned beginning with the earliest accounts. Psychosis has been virtually absent from neuropsychiatric descriptions, perhaps curiously so in view of the association between subcortical disease and delusions.

A case of epilepsy and psychosis in the seventeenth century.

A seventeenth-century painter left an account of his seizures, trances and visions; in 1923 Freud commented on this "demonological neurosis" without discussing the seizures. Attention is drawn to the concurrence of epilepsy and psychosis in this early autobiographical source.