Late-onset and fast progressive neuropathy and cardiomyopathy in Val32Ala transthyretin gene mutation
Articolo
Data di Pubblicazione:
2019
Citazione:
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]
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Cardiomyopathy; Neuropathy; Transthyretin; Val32Ala
Elenco autori:
D. Cazzato, E. Dalla Bella, P. Saveri, F. Taroni, G. Marucci, G. Lauria
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