Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurologic disorder characterized by variable combinations of myoclonus, epilepsy, cerebellar ataxia, choreoathetosis and dementia. By specifically searching published brain cDNA sequences for the presence of CAG repeats we identified unstable expansion of a CAG in a gene on chromosome 12 in all the 22 DRPLA patients examined. A good correlation between the size of the CAG repeat expansion and the ages of disease onset is found in this group. Patients with earlier onset tended to have a phenotype of progressive myoclonus epilepsy and larger expansions. We propose that the wide variety of clinical manifestations of DRPLA can now be explained by the variable unstable expansion of the CAG repeat.
Objective Harsh corporal punishment (HCP) during childhood is a chronic, developmental stressor associated with depression, aggression and addictive behaviors. Exposure to traumatic stressors, such as sexual abuse, is associated with alteration in brain structure, but nothing is known about the potential neurobiological consequences of HCP. The aim of this study was to investigate whether HCP was associated with discernible alterations in gray matter volume (GMV) using voxel-based morphometry (VBM). Methods 1,455 young adults (18–25 years) were screened to identify 23 with exposure to HCP (minimum 3 years duration, 12 episodes per year, frequently involving objects) and 22 healthy controls. High-resolution T1-weighted MRI datasets were obtained using Siemens 3T trio scanner. Results GMV was reduced by 19.1% in the right medial frontal gyrus (medial prefrontal cortex; MPFC, BA10) (P = 0.037, corrected cluster level), by 14.5% in the left medial frontal gyrus (dorsolateral prefrontal cortex; DLPFC, BA 9) (P = 0.015, uncorrected cluster level) and by 16.9% in the right anterior cingulate gyrus (BA 24) (P < 0.001, uncorrected cluster level) of HCP subjects. There were significant correlations between GMV in these identified regions and performance IQ on the WAIS-III. Conclusions Exposing children to harsh HCP may have detrimental effects on trajectories of brain development. However, it is also conceivable that differences in prefrontal cortical development may increase risk of exposure to HCP.
Objective Childhood sexual abuse (CSA) has been associated with alterations in brain morphology using region of interest analyses that have focused on stress sensitive target regions. This study was designed to ascertain the effects on gray matter volume (GMV) of exposure to CSA in a healthy population of young adult college students selected based on the history of exposure regardless of psychiatric outcome. Voxel-based morphometry (VBM) provided unbiased delineation of most significantly affected brain regions. Methods High-resolution T1-weighted MRI datasets were obtained for 23 unmedicated females with CSA and 14 healthy female controls of equivalent age and socioeconomic status with no history of trauma. Cortical surface-based analysis (FreeSurfer) was performed to verify VBM results. Results GMV was reduced by 12.6% and 18.1% in right and left primary visual (V-1) and visual association cortices of abused subjects. This reduction was directly related to duration of CSA before age 12. GMV of left and right V-1 correlated with an overall index of visual memory (r = 0.353, P = 0.032 and r=0.448, P=0.005). Cortical surface-based analysis indicated that GMV of abused subjects was reduced in the left fusiform (P=0.004), left middle occipital (P=0.04), and right lingual (P=0.002) gyri. Conclusions Early visual experience exerts a strong influence on the development of the mammalian visual cortex. Present findings indicate that exposure to traumatic events may also affect the development of this region, and are even apparent even in a population of subjects who are sufficiently healthy to matriculate.
Objective-Exposure to parental verbal aggression (PVA) during childhood increases risk for the development of psychopathology, particularly mood and anxiety disorders. Other forms of childhood abuse have been found to be associated with alterations in brain structure. The aim of this study was to ascertain whether exposure to PVA was associated with discernible effects on brain morphology.Methods-Optimized voxel based morphometry was performed on 21 unmedicated, righthanded subjects (18-25 years) with histories of PVA and 19 psychiatrically healthy controls of comparable age and gender. Group differences in gray matter volume (GMV) -covaried by age, gender, parental education, financial stress, and total GMV -were assessed using high-resolution, T1-weighted, volumetric MRI data sets (Siemens 3T trio scanner).Results-GMV was increased by 14.1% in the left superior temporal gyrus (STG, BA 22) (P = 0.004, corrected cluster level). GMV in this cluster was associated most strongly with levels of maternal (β = 0.544, P < 0.0001) and paternal (β = 0.300, P < 0.02) verbal aggression and inversely associated with parental education (β = −0.577, P < 0.0001).Conclusion-Previous studies have demonstrated an increase in STG GMV in children with abuse histories, and found a reduction in fractional anisotropy in the arcuate fasciculus connecting Wernicke's and frontal areas in young adults exposed to PVA. These findings and the present results suggest that the development of auditory association cortex involved in language processing may be affected by exposure to early stress and/or emotionally-abusive language.
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