Johannes Finnsson

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OBJECTIVE Duplication of the LMNB1 gene encoding lamin B1 causes adult-onset autosomal-dominant leukodystrophy (ADLD) starting with autonomic symptoms, which are followed by pyramidal signs and ataxia. Magnetic resonance imaging (MRI) of the brain reveals characteristic findings. This is the first longitudinal study on this disease. Our objective is to(More)
Adult-onset ADLD with autonomic symptoms is a rare disease with a clinical course somewhat similar to chronic progressive MS but with different imaging findings consisting of extensive white matter changes in the cerebrum and cerebellar peduncles. Patients usually present in the fourth to sixth decade with autonomic symptoms, manifesting later symptoms from(More)
Finnsson, J. 2016. Radiological studies of LMNB1-related autosomal dominant leukodystrophy and Marinesco-Sjögren syndrome. Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine 1261. 78 pp. Uppsala: Acta Universitatis Upsaliensis. ISBN 978-91-554-9709-5. There are approximately 6000 to 8000 rare diseases, each with a(More)
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