Schizophrenia-like symptoms in a patient with Leigh syndrome.

Leigh syndrome is a mitochondrial disease characterized by subacute necrotizing encephalomyelopathy. Almost all cases of Leigh syndrome develop at infancy or early childhood and die within several years due to rapidly progressive muscle weakness and respiratory failure. Here, we present a rare case of a patient who developed Leigh syndrome associated with thiamine-responsive pyruvate dehydrogenase-complex deficiency at 2 years of age and has survived to adolescence through effective high dose thiamin therapy. At 15 years of age, the patient presented persecutory delusions and auditory hallucinations, suggesting an association between mitochondrial dysfunction and schizophrenia-like psychotic symptoms.

Reduction of cortical GABAergic inhibition correlates with working memory impairment in recent onset schizophrenia.

BACKGROUND: Cognitive impairments are present during the early course of schizophrenia, and the contribution of GABAergic dysfunction to these cognitive impairments has received increasing attention. Cortical GABAergic inhibition can be assessed using short-interval intracortical inhibition (SICI) in a paired-pulse transcranial magnetic stimulation (ppTMS). The aim of this study was to examine the relationship between cortical GABAergic inhibition and cognitive function in recent onset schizophrenia patients using ppTMS and a neuropsychological battery. METHODS: The subjects were 20 healthy controls (HC group) and 20 patients with schizophrenia whose duration of illness was less than three years (SZ group). All subjects underwent ppTMS measurements of SICI and intracortical facilitation (ICF), and cognitive performance of the SZ group was assessed using the Brief Assessment of Cognition in Schizophrenia Japanese-language version. We examined group differences in ppTMS measurements (resting motor threshold, SICI, and ICF). In the SZ group, we assessed the relationship between SICI and cognitive performance, and the relationships between SICI and age, duration of illness, medications, and psychopathology. RESULTS: The SZ group showed a significant reduction of SICI compared to the HC group, and demonstrated a significant correlation between the reduction of SICI and impaired performance of a working memory task. The HC and the SZ groups did not differ significantly in resting motor threshold and ICF. The SZ group did not show any significant correlations between SICI and age, duration of illness, medications, or psychopathology. CONCLUSIONS: Our results suggest that the reduction of cortical GABAergic inhibition is related to impairment of working memory in patients with recent onset schizophrenia.

Cerebral blood flow in the subgenual anterior cingulate cortex and modulation of the mood-regulatory networks in a successful rTMS treatment for major depressive disorder.

The subgenual anterior cingulate cortex (Cg25) has been reported to be a node of mood-regulatory networks. Using a responder and a non-responder of repetitive transcranial magnetic stimulation (rTMS) for depression, we examined pre/post-treatment cerebral blood flow (CBF) in the Cg25 and treatment-related CBF changes in cortical/subcortical regions. In the responder, pre-treatment Cg25 perfusion was higher and was decreased after treatment, in addition, CBF was increased in the frontal and parietal regions and decreased in the hippocampus and basal ganglia. Our results suggest that rTMS treatment response may be related to pre-treatment Cg25 activity and modulation of the Cg25 and mood-regulatory networks.

Brain activity during the Clock-Drawing Test: multichannel near-infrared spectroscopy study.

The Clock-Drawing Test (CDT) is widely used in clinical practice for the screening of dementia. However, neural activity during real clock drawing has not been investigated due to motion artifacts. In the present study, we examined brain activity during real clock drawing using multichannel near-infrared spectroscopy (NIRS). We measured hemoglobin concentration changes in the prefrontal and temporal surface areas during clock drawing using 52-channel NIRS. Data obtained from 37 right-handed healthy volunteers were analyzed. We found significant increases in oxy-Hb in more than 96.2% of the channels (false-discovery rate corrected, p < .025). The time required for CDT performance showed a negative correlation with changes in oxy-Hb in the prefrontal region (r = -.529, p = .002). The mean value for oxy-Hb changes was higher in the left hemisphere in 20 subjects (54%) and in the right hemisphere in 17 subjects (46%). The NIRS/CDT combination is acceptable as a clinical tool, as the method has the advantages of direct measurement of cortical activation with high temporal resolution. Our results confirm the aspects of the CDT involving the frontal-lobe battery.

Evaluation of regional cerebral blood flow in a patient with musical hallucinations.

A 52-year-old woman with musical hallucinations was examined using brain single photon emission computed tomography (SPECT) with 99mTc-ECD. Changes in regional cerebral blood flow (rCBF) after carbamazepine treatment were assessed using a three-dimensional stereotaxic ROI template. Following treatment, rCBF was decreased in the subcortical structures and increased in the global cortical regions. From our findings, we propose that rCBF values in subcortical structures represent abnormalities similar to those reported in previous reports or other psychiatric disorders, while those in cortical regions suggest background brain dysfunctions that result in generation of musical hallucinations.