uu.seUppsala University Publications
Change search
ReferencesLink to record
Permanent link

Direct link
Glucose metabolism in the brain in LMNB1-related autosomal dominant leukodystrophy; a PET study
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences, Radiology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences, Radiology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences, Radiology.
Department of Clinical Science, Intervention and Technology (CLINTEC), Karolinska Institutet, Stockholm, Sweden.
Show others and affiliations
(English)Manuscript (preprint) (Other academic)
Abstract [en]

LMNB1-related autosomal dominant leukodystrophy is caused by an overexpression of the protein lamin B1, usually due to a duplication of the LMNB1-gene. Symptoms start in adulthood, and the disease is slowly progressive over decades and terminates with pseudobulbar palsy and finally death. Here, we present 18F-fluorodeoxyglucose positron emission tomography findings in eight patients, aged 48-64 years, with varying stages of clinical symptomatology. Initially, two patients were investigated with quantitative positron emission tomography on clinical indications after which six more were recruited. Absolute glucose metabolism in six patients was analysed with the PVElab software and compared to findings in eighteen healthy controls. A semiquantitative analysis using the CortexID software was performed in seven of the investigations, relating local metabolism levels to global glucose metabolism. In the PVElab analysis of absolute glucose metabolism, patients presented low mean glucose metabolism in the cerebellum, brainstem and global grey matter. The earlier clinical quantitative positron emission tomography also revealed low global glucose metabolism, with the most marked reduction in the cerebellum. In the semiquantitative analysis, two patients showed a decreased metabolism in the cerebellum and four patients an apparent increased metabolism in parts of the temporal lobes, compared to global glucose metabolism. However, since none of the patients showed an increased metabolism in the quantitative analysis, we interpret these findings as ‘pseudo-increases’ related to a globally reduced metabolism. The lowest metabolism in the cerebellum is consistent with the clinical cerebellar symptoms and previous histopathological findings in the disease. The global reduction of glucose metabolism most likely depends on a combination of cortical afferent dysfunction and neuronal loss.

National Category
Radiology, Nuclear Medicine and Medical Imaging
Identifiers
URN: urn:nbn:se:uu:diva-303170OAI: oai:DiVA.org:uu-303170DiVA: diva2:970982
Available from: 2016-09-15 Created: 2016-09-15 Last updated: 2016-09-15

Open Access in DiVA

No full text

By organisation
RadiologyNeurology
Radiology, Nuclear Medicine and Medical Imaging

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

ReferencesLink to record
Permanent link

Direct link