Genetic screening for transthyretin familial amyloid polyneuropathy to avoid misdiagnosis in patients with polyneuropathy associated with high protein in the cerebrospinal fluid

Acta Neurol Belg. 2023 Aug;123(4):1655-1657. doi: 10.1007/s13760-023-02215-z. Epub 2023 Feb 25.

Authors

Paulo José Lorenzoni¹, Vinicius Riegel Giugno², Renata Dal-Prá Ducci², Lineu Cesar Werneck², Claudia Suemi Kamoi Kay², Rosana Herminia Scola²

Affiliations

¹ Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, 80060-900, Brazil. [email protected].
² Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, 80060-900, Brazil.

PMID: 36840806
DOI: 10.1007/s13760-023-02215-z

No abstract available

Keywords: Cerebrospinal fluid; Familial amyloid polyneuropathy; Neuropathy; Transthyretin.

Publication types

Letter

MeSH terms

Amyloid / genetics
Amyloid / metabolism
Amyloid Neuropathies, Familial* / diagnosis
Amyloid Neuropathies, Familial* / genetics
Diagnostic Errors
Genetic Testing
Humans
Mutation
Polyneuropathies* / diagnosis
Polyneuropathies* / genetics
Prealbumin / genetics

Substances

Prealbumin
Amyloid

Supplementary concepts

Amyloidosis, Hereditary, Transthyretin-Related