Article
Transthyretin amyloidosis: a new mutation associated with dementia.
Annals of neurology - 1 Mar 1997
Petersen R B, Goren H, Cohen M, Richardson S L, Tresser N, Lynn A, Gali M, Estes M, Gambetti P
Abstract excerpt
Familial transthyretin (TTR) amyloidosis commonly presents with peripheral neuropathy and involvement of visceral organs. In contrast, signs of central nervous system (CNS) involvement are exceptional. We report that members of a kindred affected by a slowly progressive dementia, seizures, ataxia, hemiparesis, and decreased vision without neuropathy have TTR amyloid deposits in the leptomeninges, the brain...
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