Study of Cerebral MRI Anomalies in Mutated Transthyretin Amyloidosis Patients

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

36 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-10-25

Study Completion Date

2022-05-31

Brief Summary

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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.

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Detailed Description

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Conditions

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Transthyretin Amyloidosis

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Study Groups

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group patients

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.

No intervention,

Intervention Type OTHER

pure observational study

Interventions

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No intervention,

pure observational study

Intervention Type OTHER

Eligibility Criteria

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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.