Search for dissertations about: "Hereditary transthyretin amyloidosis"
Showing result 1 - 5 of 13 swedish dissertations containing the words Hereditary transthyretin amyloidosis.
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1. Hereditary transthyretin amyloidosis (ATTR V30M) : from genes to genealogy
Abstract : Background: Hereditary transthyretin amyloidosis is an autosomal dominant disease with a reduced penetrance. The most common mutation in Sweden is the V30M mutation in the transthyretin gene. Clustering areas of the disease can be found in Northern Sweden, Portugal, Brazil and Japan, although sporadic cases exist worldwide. READ MORE
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2. The heart in hereditary transthyretin amyloidosis : clinical studies on the impact of amyloid fibril composition
Abstract : Background Hereditary transthyretin amyloid (ATTRm) amyloidosis is a systemic disease mainly affecting the peripheral nervous system and the heart. The disease is inherited in an autosomal dominant manner with a varying penetrance. It is caused by mutations in the transthyretin (TTR) gene. Today more than 100 disease causing mutations are known. READ MORE
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3. A Drosophila Disease-Model for Transthyretin-associated Amyloidosis
Abstract : Amyloidoses comprise a group of gain-of-toxic function protein misfolding diseases, in which normally soluble proteins in their functional state undergo conformational changes into highly organized and generally intractable thread-like aggregates, termed amyloid fibrils. These structures accumulate predominantly in the extracellular space but growing evidence suggests that amyloids may start to form intracellularly. READ MORE
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4. Gastrointestinal disturbances in hereditary transthyretin amyloidosis
Abstract : BackgroundTransthyretin amyloid (ATTR) amyloidosis is a systemic disorder caused by amyloid deposits formed by misfolded transthyretin (TTR) monomers. Two main forms exist – wild-type and hereditary ATTR amyloidosis, the latter associated with TTR gene mutations. READ MORE
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5. Methodological aspects and usefulness of Quantitative Sensory Testing in early small fiber polyneuropathy : a clinical study in Swedish hereditary transthyretin amyloidosis patients
Abstract : Generalised polyneuropathy (PNP) is a common cause to neurological impairment, and may be an early symptom of a severe systemic disease. One such illness is hereditary transthyretin (TTR) amyloidosis (ATTR), a progressive fatal disorder caused by a mutation on the TTR gene. READ MORE
