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Early onset aggressive hereditary amyloidosis: report of an Italian family with TTR Arg47 mutation.

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Title: Early onset aggressive hereditary amyloidosis: report of an Italian family with TTR Arg47 mutation.
Authors: Salvi, F., Pastorelli, F., Plasmati, R., Ferlini, A., Grazi, G. L., Jovine, E., Mascalchi, M., Tassinari, C. A.
Source: Neurological Sciences. Jun2005, Vol. 26 Issue 2, p140-142. 3p.
Subjects: Amyloidosis, Genetic disorders, Genetic mutation, Neuropathy, Dysautonomia, Peripheral nervous system
Abstract: Arg47 is a rare transthyretin-related (TTR) amyloidosis variant that is characterised by polyneuropathy and autonomic failure. We describe an Italian family with this mutation whose members (two women and their father) showed a rapid progression of the peripheral nervous system involvement and died within 5 years of clinical onset. Patients with Arg47 or other aggressive TTR amyloidoses should be considered high priority patients for orthotopic liver transplantation. [ABSTRACT FROM AUTHOR]
Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Early onset aggressive hereditary amyloidosis: report of an Italian family with TTR Arg47 mutation.
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  Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Jun2005, Vol. 26 Issue 2, p140-142. 3p.
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  Data: <searchLink fieldCode="DE" term="%22Amyloidosis%22">Amyloidosis</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+disorders%22">Genetic disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+mutation%22">Genetic mutation</searchLink><br /><searchLink fieldCode="DE" term="%22Neuropathy%22">Neuropathy</searchLink><br /><searchLink fieldCode="DE" term="%22Dysautonomia%22">Dysautonomia</searchLink><br /><searchLink fieldCode="DE" term="%22Peripheral+nervous+system%22">Peripheral nervous system</searchLink>
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  Data: Arg47 is a rare transthyretin-related (TTR) amyloidosis variant that is characterised by polyneuropathy and autonomic failure. We describe an Italian family with this mutation whose members (two women and their father) showed a rapid progression of the peripheral nervous system involvement and died within 5 years of clinical onset. Patients with Arg47 or other aggressive TTR amyloidoses should be considered high priority patients for orthotopic liver transplantation. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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