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cerebellum and cacna1c

Heidelore Backes, Bruno Dietsche, Arne Nagels, Carsten Konrad, Stephanie H Witt, Marcella Rietschel, Tilo Kircher, Axel Krug
Genetic studies found the A allele of the single nucleotide polymorphism rs1006737 in the CACNA1C gene, which encodes for the alpha 1C subunit of the voltage-dependent, L-type calcium ion channel Cav1.2, to be overrepresented in patients with major depressive disorder (MDD). Altered prefrontal brain functioning and impaired semantic verbal fluency (SVF) are robust findings in these patients. A recent functional magnetic resonance imaging (fMRI) study found the A allele to be associated with poorer performance and increased left inferior frontal gyrus (IFG) activation during SVF tasks in healthy subjects...
June 2014: Journal of Psychiatric Research
E S Gershon, K Grennan, J Busnello, J A Badner, F Ovsiew, S Memon, N Alliey-Rodriguez, J Cooper, B Romanos, C Liu
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...
August 2014: Molecular Psychiatry
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