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Autosomal Dominant ...
Autosomal Dominant Leukodystrophy with Autonomic Symptoms and Rippling Muscle Disease : Translational Studies of Two Neurogenetic Diseases
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- Sundblom, Jimmy, 1981- (author)
- Uppsala universitet,Neurologi
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- Smits, Anja, professor (thesis advisor)
- Uppsala universitet,Neurologi
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- Raininko, Raili, professor (thesis advisor)
- Uppsala universitet,Enheten för radiologi
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- Dahl, Niklas, professor (thesis advisor)
- Uppsala universitet,Medicinsk genetik
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- Kullander, Klas, professor (thesis advisor)
- Uppsala universitet,Genetisk utvecklingsbiologi
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- Fex-Svenningsen, Åsa, docent (thesis advisor)
- Experimental neuroscience, Syddansk Universitet Odense
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- de Visser, Marianne, professor (opponent)
- University of Amsterdam, Academic Medical Centre, Department of neurology
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(creator_code:org_t)
- ISBN 9789155482305
- Uppsala : Acta Universitatis Upsaliensis, 2011
- English 76 s.
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Series: Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, 1651-6206 ; 726
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Abstract
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- There is a large variety of diseases caused by single-gene mutations. Although most of these conditions are rare, together they impose a significant burden to the population. This thesis describes clinical and genetic studies of two single-gene diseases: 1) Adult-onset autosomal dominant leukodystrophy with autonomic symptoms (ADLD) caused by LMNB1 gene duplications, and characterized by autonomic, pyramidal and cerebellar symptoms. Spinal cords of patients with ADLD were studied by MRI and found to be thin, with high signal intensity in white matter. Histopathology showed loss of myelinated fibres with some reactive gliosis. DNA samples from four different families with ADLD were obtained, and the LMNB1 gene was screened for duplications. Single nucleotide polymorphism array revealed LMNB1 duplications in all ADLD families. LMNB1 mRNA and protein levels were assessed in white blood cells using quantitative polymerase chain reaction and Western blot, and increased levels of LMNB1 mRNA and lamin B1 protein could be demonstrated. We concluded that spinal cord atrophy in patients with ADLD is a valuable differential diagnostic sign, and that increased levels of LMNB1 can be detected in peripheral blood. 2) Rippling muscle disease (RMD) is caused by CAV3 gene mutations. Clinical features are percussion-induced muscle mounding, –rapid contractions and undulating muscle contractions (rippling). The CAV3 gene was sequenced in 38 members of a family with RMD. Twenty-two individuals had clinical features of RMD. No muscle weakness was seen. All patients with signs of RMD carried the p.A46T CAV3 mutation, showing that the p.A46T mutation was benign and that the diagnosis can be made clinically. In vitro contracture test results from 10 of the subjects were collected, but no association between pathological test results and RMD was found.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Keyword
- Inborn genetic diseases
- Leukoencephalopathies
- Lamin type B
- Muscular disease
- Caveolin 3
- Neurology
- Neurologi
Publication and Content Type
- vet (subject category)
- dok (subject category)
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Sundblom, Jimmy, ...
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Smits, Anja, pro ...
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Raininko, Raili, ...
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Dahl, Niklas, pr ...
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Kullander, Klas, ...
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Fex-Svenningsen, ...
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de Visser, Maria ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Neurology
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Uppsala University