Study of Cerebral MRI Anomalies in Mutated Transthyretin Amyloidosis Patients (TTR-SNC)

  • End date
    Dec 25, 2022
  • participants needed
  • sponsor
    Centre Hospitalier Universitaire de Nīmes
Updated on 25 March 2022


Transthyretin amyloidosis (aTTR) initially described as a rare disease, became the most serious hereditary polyneuropathy of adult onset and family screening has made it possible to identify and follow up many asymptomatic patients and carriers of the mutation in the TTR gene.

Considered as a systemic disease with involvement of target organs (the heart, the eye, the kidney and peripheral nervous system), it seems to be more complex for neurologists according to recent publications raising the issue of central nervous system involvement.

Indeed, TTR amyloid deposits seem to be correlated with the duration of the disease. These deposits can cause cortical damage by different mechanisms: direct TTR toxicity or as a result of pathology related to cerebral amyloid angiopathy (intraparenchymal or subarachnoid hematomas, small infarcts, hemosiderin). A small number of mutations in the TTR gene cause a rare phenotype of systemic amyloidosis, the oculoleptomeningeal form, characterized by clinical neurological symptoms: progressive dementia, epilepsy, ataxia, spastic paraparesis, stroke-like episodes.

Hypothesis of the work: the central nervous system involvement is probably underestimated on the radiological description in patients with TTR mutation.

Condition Transthyretin Amyloidosis
Treatment No intervention,
Clinical Study IdentifierNCT05075798
SponsorCentre Hospitalier Universitaire de Nīmes
Last Modified on25 March 2022


Yes No Not Sure

Inclusion Criteria

patients followed at the University Hospital of Nîmes between 2017 and 2021 for a TTR neuropathy with proven mutation, having benefited from a brain MRI

Exclusion Criteria

Patients without TTR neuropathy with proven mutation, or who did not have a brain MRI
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