open access

Vol 54, No 6 (2020)
Research Paper
Submitted: 2020-05-26
Accepted: 2020-09-28
Published online: 2020-12-29
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Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland — genetic and clinical presentation

Marta Lipowska1, Hanna Drac1, Dorota Rowczenio2, Janet Gilbertson2, Philip N. Hawkins2, Anetta Lasek-Bal3, Janusz Szewczuk4, Jacek Grzybowski5, Monika Gawor5, Małgorzata Stępień-Wojno6, Maria Franaszczyk7, Joanna Brydak-Godowska8, Renata Śmierciak9, Agnieszka Ptasińska-Perkowska10, Jan Chandoga11, Robert Petrovic11, Anna Kostera-Pruszczyk1
·
Pubmed: 33373035
·
Neurol Neurochir Pol 2020;54(6):552-560.
Affiliations
  1. Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland
  2. National Amyloidosis Centre, University College London, Rowland Hill Street, London, United Kingdom
  3. Department of Neurology, School of Health Sciences, Medical University of Silesia, Katowice, Poland
  4. Department of Neurology, Specialist Hospital, Słupsk, Poland
  5. Department of Cardiomyopathy, Institute of Cardiology, Warsaw, Poland
  6. Unit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, Warsaw, Poland
  7. Department of Medical Biology,Institute of Cardiology, Warsaw, Poland
  8. Department of Ophthalmology, Medical University of Warsaw
  9. Department of Neurology, Specialist Hospital, Nowy Sącz, Poland
  10. Department of Transplantation Medicine, Nephrology, Internal Diseases, T. Orłowski Institute of Transplantation Medical University of Warsaw, Warsaw, Poland
  11. Institute of Medical BiolGenetics and Clinical Genetics, Comenius University, Faculty of Medicine & University Hospital, Bratislava, Slovakia

open access

Vol 54, No 6 (2020)
Research papers
Submitted: 2020-05-26
Accepted: 2020-09-28
Published online: 2020-12-29

Abstract

Background. Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) is a rare, progressive, hereditary, highly disabling multisystem disorder. ATTR-FAP phenotypes differ according to the type of TTR mutation, geographic region and other as yet unidentified factors. The aim of this study was to establish the clinical and genetic characteristics of Polish patients.

Methods and patients.
Clinical data and necessary examinations were collected from patients diagnosed with ATTR-FAP at the Department of Neurology of Medical University of Warsaw between 1970 and 2019.

Results.
16 patients from eight unrelated families with five different TTR mutations were identified. The family with Val71Ala TTR mutation presented with early onset severe progressive polyneuropathy, with marked visual symptoms in a few patients. The next family with Ile73Val TTR mutation developed symptoms in middle age, and presented with mixed neuropathic and cardiologic phenotype. Four unrelated families were found to have the Phe33Leu TTR mutation with mixed neuropathic and cardiologic phenotype and late onset of symptoms. Other TTR mutations identified were: Val30Met and Asp38Val, both with late onset sensory, motor and autonomic neuropathy.

Conclusion.
Polish ATTR-FAP cases presented with heterogeneity typical for non-endemic areas. Phe33Leu TTR mutation was the most common, found in four unrelated families.

Abstract

Background. Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) is a rare, progressive, hereditary, highly disabling multisystem disorder. ATTR-FAP phenotypes differ according to the type of TTR mutation, geographic region and other as yet unidentified factors. The aim of this study was to establish the clinical and genetic characteristics of Polish patients.

Methods and patients.
Clinical data and necessary examinations were collected from patients diagnosed with ATTR-FAP at the Department of Neurology of Medical University of Warsaw between 1970 and 2019.

Results.
16 patients from eight unrelated families with five different TTR mutations were identified. The family with Val71Ala TTR mutation presented with early onset severe progressive polyneuropathy, with marked visual symptoms in a few patients. The next family with Ile73Val TTR mutation developed symptoms in middle age, and presented with mixed neuropathic and cardiologic phenotype. Four unrelated families were found to have the Phe33Leu TTR mutation with mixed neuropathic and cardiologic phenotype and late onset of symptoms. Other TTR mutations identified were: Val30Met and Asp38Val, both with late onset sensory, motor and autonomic neuropathy.

Conclusion.
Polish ATTR-FAP cases presented with heterogeneity typical for non-endemic areas. Phe33Leu TTR mutation was the most common, found in four unrelated families.

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Keywords

familial amyloid polyneuropathy, amyloidosis, transthyretin, TTR mutations

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About this article
Title

Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland — genetic and clinical presentation

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 54, No 6 (2020)

Article type

Research Paper

Pages

552-560

Published online

2020-12-29

Page views

1445

Article views/downloads

1276

DOI

10.5603/PJNNS.a2020.0100

Pubmed

33373035

Bibliographic record

Neurol Neurochir Pol 2020;54(6):552-560.

Keywords

familial amyloid polyneuropathy
amyloidosis
transthyretin
TTR mutations

Authors

Marta Lipowska
Hanna Drac
Dorota Rowczenio
Janet Gilbertson
Philip N. Hawkins
Anetta Lasek-Bal
Janusz Szewczuk
Jacek Grzybowski
Monika Gawor
Małgorzata Stępień-Wojno
Maria Franaszczyk
Joanna Brydak-Godowska
Renata Śmierciak
Agnieszka Ptasińska-Perkowska
Jan Chandoga
Robert Petrovic
Anna Kostera-Pruszczyk

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