Diffusion tensor imaging of brain white matter in Huntington gene mutation individuals / Imagem por tensor de difusão em indivíduos com mutação do gene da doença de Huntington

ABSTRACT Objective To evaluate the role of the involvement of white matter tracts in huntingtin gene mutation patients as a potential biomarker of the progression of the disease. Methods We evaluated 34 participants (11 symptomatic huntingtin gene mutation, 12 presymptomatic huntingtin gene mutation, and 11 controls). We performed brain magnetic resonance imaging to assess white matter integrity using diffusion tensor imaging, with measurement of fractional anisotropy. Results We observed a significant decrease of fractional anisotropy in the cortical spinal tracts, corona radiate, corpus callosum, external capsule, thalamic radiations, superior and inferior longitudinal fasciculus, and inferior frontal-occipital fasciculus in the Huntington disease group compared to the control and presymptomatic groups. Reduction of fractional anisotropy is indicative of a degenerative process and axonal loss. There was no statistically significant difference between the presymptomatic and control groups. Conclusion White matter integrity is affected in huntingtin gene mutation symptomatic individuals, but other studies with larger samples are required to assess its usefulness in the progression of the neurodegenerative process.

RESUMO Objetivo Avaliar o envolvimento da substância branca (SB) cerebral em indivíduos com mutação do gene da huntingtina. Métodos Foram avaliados 34 indivíduos: 11 com mutação do gene da huntingtina sintomática, 12 assintomáticos com mutação do gene da huntingtina e 11 indivíduos controles. Realizamos ressonância magnética cerebral para avaliar a integridade da SB usando o tensor de difusão (DTI), com medição da anisotrofia fracionada (FA). Resultados Observamos uma diminuição da FA no trato corticoespinhal, coroa radiada, corpo caloso (joelho, corpo e esplênio), cápsula externa, radiações talâmicas, fascículo longitudinal superior e inferior, e fascículo frontal-occipital inferior no grupo dos indivíduos com mutação sintomática. A redução da FA é indicativa de processo degenerativo e perda axonal. Não houve diferença estatística entre os grupos controle e pré-sintomático. Conclusão Houve comprometimento da integridade da SB em indivíduos com mutação no gene da Huntingtina sintomática, mas outros estudos são necessários para avaliar a sua utilidade na progressão do processo neurodegenerativo.

Correlação entre espessura cortical frontal e desempenho de funções executivas em pacientes com infecção pelo vírus da imunodeficiência humana / Correlation between frontal cortical thickness and executive functions performance in patients with human immunodeficiency virus infection

OBJETIVO: Investigar a relação entre a espessura cortical medida pela ressonância magnética em regiões frontais e o desempenho em instrumentos que avaliam funções executivas em pacientes com HIV positivo. MATERIAIS E MÉTODOS: Participaram deste estudo 22 pacientes HIV-positivos, com déficits em funções executivas, sob terapia antirretroviral, idades entre 45 e 65 anos e escolaridade entre 3 e 20 anos. Foi realizada ressonância magnética com sequências convencionais, T1 3D, processado pelo Freesurfer para verificar espessura cortical. Instrumentos de avaliação das funções executivas: Teste de Trilhas, Wisconsin, Hayling, Dígitos (WAIS-III), fluência verbal ortográfica e Stroop. Para análise da relação espessura versus cognição, utilizou-se coeficiente de correlação de Pearson. RESULTADOS: Correlações significativas foram encontradas entre escores de: Wisconsin e espessura das regiões pré-central e orbitofrontal lateral à direita e pré-central esquerda; Teste de Trilhas e espessura da área pré-central direita e cíngulo anterior caudal esquerdo; e Teste Hayling e espessura da área lateral orbitofrontal esquerda. CONCLUSÃO: As correlações existentes entre medidas de espessura cortical pela ressonância magnética e desempenho cognitivo sugerem que os déficits executivos em pacientes HIV-positivos relacionam-se a uma redução da espessura cortical das regiões frontais.

OBJECTIVE: To investigate the correlation between frontal regions cortical thickness measured by magnetic resonance imaging of HIV-positive patients and their performance on instruments for assessing executive functions. MATERIALS AND METHODS: The present study included 22 HIV-positive patients in the age range from 45 to 65, schooling ranging between three and 20 years, with executive functions deficit and undergoing antiretroviral therapy. Magnetic resonance imaging was performed with conventional T1-weighted, 3D sequences and the images were processed with the Freesurfer software to measure cortical thickness. The following instruments were utilized to evaluate the patients' executive functions: Trail Making, Wisconsin, Hayling, working memory (WAIS-III), verbal fluency and Stroop tests. The Pearson's correlation coefficient was utilized in the data statistical analysis. RESULTS: Significant correlations were found between: Wisconsin scores and the thickness of the right pre-central, lateral and left pre-central orbitofrontal regions; Trail Making scores and thickness of right pre-central and left anterior caudal cingulate areas; and Hayling Test scores and thickness of the left lateral orbitofrontal area. CONCLUSION: Correlations between cortical thickness measurements by magnetic resonance imaging and cognitive performance suggest that the executive function deficit in HIV-positive patients are related to a reduction in the thickness of the frontal cortex.

In vivo evaluation of cortical thickness with magnetic resonance imaging in patients with bipolar disorder

Changes in cortical thickness can be related to neuropsychiatric disorders and neurodegenerative processes. Previous studies have been conducted to characterize the pattern of changes in cortical thickness in several psychiatric diseases. The aim of the present study was to evaluate changes in cortical thickness with magnetic resonance imaging (MRI) in patients with bipolar disorder. Twenty-seven patients with bipolar disorder (14 male, 36.0 ± 16.2 years old; 13 female, 41.6 ± 10.7 years old) and 40 healthy controls (16 male, 36.0 ± 10.5 years old; 24 female, 37.0 ± 4.7 years old) underwent 3T MRI. Sagittal T1-weighted magnetization prepared rapid acquisition gradient echo images were acquired (voxel size, 1.33 mm³; 128 slices; in-plane matrix resolution, 256 × 256; flip angle, 7º; repetition time, 2530 ms; echo time, 3.39 ms; inversion time, 1100 ms). Cortical segmentation was performed using FreeSurfer 4.0.5. The results indicated both thinning and thickening of the cerebral cortex in patients with bipolar disorder compared with controls, depending on gender. Significant (p < .01) thickening was observed in the right hemisphere superior-parietal cortex in female patients with bipolar disorder, and significant (p < .05) thinning was observed in the left hemisphere caudal-anterior cingulate in male patients with bipolar disorder. The other regions did not show significant differences. The results suggest that an analysis of cortical thickness with MRI in patients with bipolar disorder may allow identification of areas that may be morphologically changed compared with controls. Demonstration of these alterations will elucidate the pathophysiology of bipolar disorder and may contribute to better therapies for this disorder.

Diffusion-weighted MR images and pineoblastoma: diagnosis and follow-up

Pineoblastomas are uncommon pineal tumors, which demonstrate rapid growing and poor prognosis. We report the case of a 43-year-old man with an enhancing pineal region mass, which showed restriction of the diffusion on diffusion-weighted (DW) MR images. The surgical biopsy defined the diagnosis of pineoblastoma and the therapy was initiated with radiation and chemotherapy. Three months later, the follow-up MR imaging showed areas suggestive of necrosis and the DW images demonstrate no significant areas of restricted diffusion. The differential diagnosis of pineal region masses that could show restriction of diffusion is discussed.

Pineoblastomas são tumores incomuns da glândula pineal, os quais têm crescimento rápido e prognóstico reservado. Os autores objetivam relatar o caso de um homem de 43 anos de idade com uma massa na região pineal com realce pelo contraste, a qual demonstrou restrição da difusão nas imagens de ressonância magnética (RM) pesadas em difusão. A biópsia cirúrgica definiu o diagnóstico de pineoblastoma e o tratamento foi iniciado com radio e quimioterapia. Três meses mais tarde, a RM de controle demonstrou áreas sugestivas de necrose e não mais eram observadas áreas de restrição da difusão da água. O diagnóstico diferencial das massas na região pineal que podem apresentar restrição da difusão é discutido.