Current Review of Leptomeningeal Amyloidosis Associated With Transthyretin Mutations

Conclusion: Clinicians should be aware of this rare form of familial transthyretin amyloidosis as well as its typical MRI enhancement and high CSF protein. The important role of biopsy, genetic testing and the potential early diagnosis value of contrast MRI were suggested. Early recognition of these characteristics is important to provide misdiagnosis and shorten the time before correct diagnosis. These findings expand the phenotypic spectrum of TTR gene and have implications for the diagnosis, treatment, and systematic study of LA.
Source: The Neurologist - Category: Neurology Tags: Review Articles Source Type: research