More than 100 mutations of the transthyretin gene have been reported in autosomal dominant familial amyloid polyneuropathy. This rare disease causes severe motor and sensory disability, dysautonomia, and in some patients also cardiomyopathy. The diagnosis can be challenging mainly in sporadic adult patients showing clinical, laboratory, and neurophysiological findings overlapping other forms of chronic neuropathy. We describe the clinical features and course of a patient harboring the rare p.V32A (c.155T>C) variant that was previously described in only two patients and whose pathogenicity was unclear.

Late-onset and fast progressive neuropathy and cardiomyopathy in Val32Ala transthyretin gene mutation / D. Cazzato, E. Dalla Bella, P. Saveri, F. Taroni, G. Marucci, G. Lauria. - In: NEUROLOGICAL SCIENCES. - ISSN 1590-1874. - (2019 Jan 26). [Epub ahead of print]

Late-onset and fast progressive neuropathy and cardiomyopathy in Val32Ala transthyretin gene mutation

G. Lauria
Ultimo
2019

Abstract

More than 100 mutations of the transthyretin gene have been reported in autosomal dominant familial amyloid polyneuropathy. This rare disease causes severe motor and sensory disability, dysautonomia, and in some patients also cardiomyopathy. The diagnosis can be challenging mainly in sporadic adult patients showing clinical, laboratory, and neurophysiological findings overlapping other forms of chronic neuropathy. We describe the clinical features and course of a patient harboring the rare p.V32A (c.155T>C) variant that was previously described in only two patients and whose pathogenicity was unclear.
Cardiomyopathy; Neuropathy; Transthyretin; Val32Ala
Settore MED/26 - Neurologia
26-gen-2019
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/617522
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