No abstract

An autopsy case of myotonic dystrophy (MD) is reported. The patient was a 58-year-old male.He presented with muscular weakness and muscular atrophy at the age of 33 and was diagnosed as having MD from myotonic symptoms (i.e. percussion and grip myotonia) at 49 years old. Mental disorders including a delusional hallucinatory state, mental slowness, indifference, and lack of spontaneity as well as visual cognitive impairments were noted at the age of 55. He showed Parkinsonism and died of septic shock. T2-weighted magnetic resonance imaging demonstrated diffuse cortical atrophy with a marked frontal atrophy and high-intensity signals in the white matter. Single photon emission computed tomography demonstrated hypoperfusion in the frontal cortex. Neuropathologic observation revealed neuronal loss in the superficial layer of the frontal and parietal cortices and extensive neuronal loss in the occipital cortex, intracytoplasmic inclusion body in the nerve cell of the medial thalamic nuclei, neuronal loss and presence of Lewy bodies in the substantia nigra and locus ceruleus corresponding to the pathologic features of Parkinson's disease, as well as abnormalities of myelin in the white matter. The present case suggests that in MD brain, various neuropathologic changes may occur and they contribute to the mental disorders.

Dysfunction of serotonin systems has been implicated in schizophrenia. In the present study, the human 5-HT 1A receptor gene containing the 5 untranslated region was screened in order to detect genetic variations, through which alteration of protein function or level of expression might contribute to schizophrenia. Genomic DNAs were isolated from whole-blood samples of 61 unrelated schizophrenic patients and 100 healthy controls. Genetic variations were screened systematically by single-strand conformational polymorphism (SSCP) analysis, followed by direct sequencing of polymerase chain reaction (PCR) product as well as restriction fragment-length polymorphism (RFLP). The novel mutations (−51T → C, −152C → G, −321G → C, −480delA, and −581C → A) were found in the 5 untranslated region. Furthermore, we found a novel missense mutation (Gly272Asp) in the coding region in addition to the mutations (Pro16Leu, 294G → A, and 549C → T) reported previously. No significant differences in genotype frequencies as well as allele frequencies were found between patients and controls. Our data provided no evidence of association between schizophrenia and the variants in the 5 untranslated region as well as the coding region of the human 5-HT 1A receptor gene. Am.

In a retrospective brain magnetic resonance imaging study, we evaluated the prevalence and severity of signal hyperintensities in 30 elderly depressed patients and 30 controls matched for age, sex and cerebrovascular risk factors. A semiquantitative scoring method was used to grade findings in T2-weighted and proton density images. The elderly depressed patients had more extended periventricular hyperintensities, especially in the frontal region (depressed vs. control, 87 vs. 57%, p < 0.05), pons (33 vs. 7%, p < 0.05) as well as hyperintensities in the putamen and globus pallidus (57 vs. 27%, p < 0.05). The third ventricle was more dilated in depressed patients than controls after adjustment for age and cerebrovascular risk factors. The global index for ventricular enlargement was correlated significantly (r = 0.36, p < 0.05) with the severity of the hyperintensity in depressed patients. Our results indicate that these hyperintensities, especially in the frontal region, pons and lenticular nuclei, and the dilatation of the third ventricle play an important role, through the frontal-subcortical circuits, in mood regulation of elderly depressed patients.

A case of mitochondrial encephalomyopathy (MELAS) with mental disorder is reported. The SPECT study using 123I-iodoamphetamine (IMP) and MRI study revealed abnormality in the left parieto-occipital areas without abnormality in the brain CT or brain scintigram. These findings suggest a localized dysfunction of the brain capillary endothelium in association with the cerebral involvement of mitochondrial encephalomyopathy.