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The frequency of central nervous system complications in the Cypriot cohort of ATTRV30M neuropathy transplanted patients

Neurological Sciences volume 41, pages 1163–1170 (2020)Cite this article

Abstract

Background

Hereditary transthyretin amyloidosis (ATTR) is a hereditary, sensorimotor and autonomic neuropathy caused by deposits of mutated transthyretin (TTR). The commonest TTR mutation is V30M (ATTRV30M) with patients usually living for about 10 years after disease onset. Liver transplantation (LT) until recently was considered the standard treatment.

Objective and methods

This study aims to assess the frequency of CNS complications in post-LT patients from the Cypriot cohort. Epidemiological data were collected for all genetically confirmed ATTRV30M neuropathy patients diagnosed at CING since 1992, and CNS-associated symptoms were assessed and evaluated by two neurology specialists.

Results

Out of the 48 transplanted patients, 10 (20.8%) presented with a CNS complication. All patients had ocular involvement, mainly glaucoma (7/10). Eight presented with transient focal neurological episodes (TFNEs), with expressive dysphasia being reported by four of them. The mean time of TFNE-emergence was 16.6 years after the LT. Three died from cerebral hemorrhage.

Conclusions

CNS complications in post-LT ATTRV30M patients are not rare and usually manifest themselves at a time that surpasses the mean time the patients would have survived without a LT. CNS involvement is associated with increased mortality, due to cerebral hemorrhage.

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Fig. 1

Abbreviations

ATTR:

Transthyretin-related amyloidosis

CING:

Cyprus Institute of Neurology and Genetics

CNS:

Central nervous system

FAP:

Familial amyloidotic polyneuropathy

FNE:

Focal neurological episode

LT:

Liver transplantation

TFNE:

Transient focal neurological episode

TTR:

Transthyretin

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Funding

This work was supported by the Muscular Dystrophy Association Cyprus/Telethon Cyprus and Pfizer’s GLOBAL Aspire Grants.

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Authors and Affiliations

  1. Neuropathology Department/Neurology Clinic A, The Cyprus Institute of Neurology & Genetics, PO Box 23462, 1683, Nicosia, Cyprus

    Efthimios Dardiotis, Savanna Andreou, Elena Panayiotou & Theodoros Kyriakides

  2. Department of Neurology, Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa, Larissa, Greece

    Efthimios Dardiotis, Athina-Maria Aloizou & Vasileios Siokas

  3. Limassol General Hospital, Limassol, Cyprus

    Mihaela Nedea Ioannou & Emmelia Vounou

  4. Neurogenetics Department and Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus

    Kyproula Christodoulou

  5. Clinical Genetics Clinic, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus

    George A. Tanteles

  6. Alpha Evresis Diagnostic Center, Nicosia, Cyprus

    Demos Michaelides

  7. Department of Basic and Clinical Sciences, University of Nicosia, Nicosia, Cyprus

    Theodoros Kyriakides

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  1. Efthimios Dardiotis
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Correspondence to Theodoros Kyriakides.

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The study received the approval of the Cyprus National Ethics Committee ΕΕΒΚ/ΕΠ/2015/36 and written informed consent granted by the participants.

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Dardiotis, E., Andreou, S., Aloizou, AM. et al. The frequency of central nervous system complications in the Cypriot cohort of ATTRV30M neuropathy transplanted patients. Neurol Sci 41, 1163–1170 (2020). https://doi.org/10.1007/s10072-019-04176-9

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Keywords

  • ATTR
  • CNS
  • Familial amyloidotic polyneuropathy
  • Liver transplant
  • Cyprus

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