Source:http://linkedlifedata.com/resource/pubmed/id/21692911
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
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| pubmed:dateCreated |
2011-6-22
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| pubmed:abstractText |
Autosomal-dominant transthyretin (TTR)-related amyloidosis usually manifests in the second to fourth decade with a length-dependent axonal neuropathy with prominent involvement of the small fibers and multi-organ systemic failure. We retrospectively analyzed seventeen probands, including thirteen apparently isolated cases, carrying eight mutations of TTR gene (age of onset = 60.4 ± 13.5 years). Thirteen patients were initially un/misdiagnosed; interval from onset to definite diagnosis was 3.3 ± 2.3 years. Inaugural syndromes were a length-dependent motor-sensory neuropathy in seven cases, a sensory neuropathy in four, an isolated carpal tunnel syndrome in three, a pure dysautonomia in two, and a painful neuropathy in one. Atypical presentations included demyelinating nerve conduction changes with increased cerebrospinal fluid proteins resembling chronic inflammatory demyelinating polyradiculoneuropathy and a predominantly motor involvement resembling a motor neuron disorder. Misleading findings also included amyloid-negative abdominal fat aspirate/biopsy, biclonal gammopathy, and hepatitis C virus (HCV) seropositivity. Sural nerve biopsy detected amyloid deposits in thirteen of fifteen patients, including one case with a previous negative biopsy. TTR-immunohistochemistry was necessary to complete the diagnosis of primary amyloidosis light chain in a patient with biclonal gammopathy. A recurrent p.Phe64Leu mutation manifested in the seventh decade with painful motor-sensory polyneuropathy, dysautonomia, bulbar palsies, and fasciculations. TTR should be tested in a wide clinical spectrum of cryptogenetic, progressive, and motor-sensory neuropathies even manifesting with a very late onset.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Jun
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| pubmed:issn |
1529-8027
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| pubmed:author |
pubmed-author:BrianiChiaraC,
pubmed-author:CabriniIlariaI,
pubmed-author:CappellariManuelM,
pubmed-author:CavallaroTizianaT,
pubmed-author:FabriziGian MariaGM,
pubmed-author:FerrariSergioS,
pubmed-author:FerrariniMorenoM,
pubmed-author:MerliniGiampaoloG,
pubmed-author:ObiciLauraL,
pubmed-author:TaioliFedericaF
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| pubmed:copyrightInfo |
© 2011 Peripheral Nerve Society.
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| pubmed:issnType |
Electronic
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| pubmed:volume |
16
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
119-29
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| pubmed:meshHeading |
pubmed-meshheading:21692911-Adult,
pubmed-meshheading:21692911-Aged,
pubmed-meshheading:21692911-Aged, 80 and over,
pubmed-meshheading:21692911-Amyloid Neuropathies, Familial,
pubmed-meshheading:21692911-Biopsy,
pubmed-meshheading:21692911-DNA Mutational Analysis,
pubmed-meshheading:21692911-Diagnosis, Differential,
pubmed-meshheading:21692911-Electrophysiology,
pubmed-meshheading:21692911-Female,
pubmed-meshheading:21692911-Humans,
pubmed-meshheading:21692911-Immunohistochemistry,
pubmed-meshheading:21692911-Male,
pubmed-meshheading:21692911-Middle Aged,
pubmed-meshheading:21692911-Motor Neuron Disease,
pubmed-meshheading:21692911-Mutation,
pubmed-meshheading:21692911-Pedigree,
pubmed-meshheading:21692911-Phenotype,
pubmed-meshheading:21692911-Polymerase Chain Reaction,
pubmed-meshheading:21692911-Polyradiculoneuropathy, Chronic Inflammatory Demyelinating,
pubmed-meshheading:21692911-Prealbumin,
pubmed-meshheading:21692911-Retrospective Studies
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| pubmed:year |
2011
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| pubmed:articleTitle |
Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients.
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| pubmed:affiliation |
Department of Neurological, Neuropsychological, Morphological and Movement Sciences, University of Verona, Verona.
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| pubmed:publicationType |
Journal Article
|