Journal of neurology
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Journal of neurology · Dec 2014
Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).
Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal dominant disease caused by mutations within the colony stimulating factor 1 receptor (CSF1R) gene. While a small number of reports on imaging findings in routine MRI exist, reported imaging findings in DWI and spectroscopy are scarce, and limited to not genetically proven case reports. We assessed MRI including DWI and MR spectroscopy in six patients with HDLS and two asymptomatic mutation carriers. ⋯ Diffusion restriction seems to be a typical imaging pattern visible in patients with active disease progression in HDLS. Spectroscopic findings and the absence of microbleeds differ clearly from reported findings in CADASIL and subcortical arteriosclerotic encephalopathy. While the distribution and character of WMLs in asymptomatic cases remain unspecific they are likely to represent subclinical markers of HDLS.
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Journal of neurology · Dec 2014
Delayed posterior circulation insufficiency in pediatric moyamoya disease.
Approximately 30% of patients with moyamoya disease (MMD) have presented with involvement of the posterior circulation, mainly the posterior cerebral artery (PCA). Diagnosis of delayed progression of PCA stenosis in MMD may be difficult due to the diversity in clinical features. The goal of this study was to evaluate pediatric MMD patients with delayed PCA involvement after completion of revascularization of the anterior circulation. ⋯ Clinicians should be aware of the possibility of delayed involvement of the PCA in pediatric MMD patients. The clinical decision regarding treatment should be based on a combination of symptomatology and the results obtained with various tools to assess whether the blood flow in the PCA territory is insufficient. Surgical treatment using indirect revascularization appears to be effective for patients with delayed PCA involvement.
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Journal of neurology · Dec 2014
Frontal lobe function and behavioral changes in amyotrophic lateral sclerosis: a study from Southwest China.
Despite growing interest, the frequency and characteristics of frontal lobe functional and behavioral deficits in Chinese people with amyotrophic lateral sclerosis (ALS), as well as their impact on the survival of ALS patients, remain unknown. The Chinese version of the frontal assessment battery (FAB) and frontal behavioral inventory (FBI) were used to evaluate 126 sporadic ALS patients and 50 healthy controls. The prevalence of frontal lobe dysfunction was 32.5%. ⋯ Frontal lobe dysfunction may be related to the onset age and educational level. The severity of frontal behavioral changes may be associated with the ALSFRS-R. However, the frontal functional impairment and the frontal behavioral changes do not worsen the progression or survival of ALS.