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Updated: Dec 23, 2025
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Hereditary cerebral amyloid angiopathy, Piedmont-type mutation
Mariel G Kozberg1, Susanne J van Veluw1, Matthew P Frosch1
1MassGeneral Institute for Neurodegenerative Disease (M.G.K., S.J.v.V.), Massachusetts General Hospital and Harvard Medical School, Charlestown; Department of Neurology (M.G.K., S.J.v.V., S.M.G.), Massachusetts General Hospital, Boston; Department of Neurology (M.G.K.), Brigham and Women's Hospital, Boston; J. Philip Kistler Stroke Research Center (S.J.v.V., S.M.G.), Massachusetts General Hospital and Harvard Medical School, Boston; and Neuropathology Service, C. S. Kubik Laboratory for Neuropathology (M.P.F), Massachusetts General Hospital and Harvard Medical School, Boston.
Objective:
We present here a case report of a patient with a family history of intracerebral hemorrhages (ICHs) who presented with multiple large lobar hemorrhages in rapid succession, with cognitive sparing, who was found to have a mutation in the β-amyloid coding sequence of amyloid precursor protein (Leu705Val), termed the Piedmont-type mutation, the second ever reported case of this form of hereditary cerebral amyloid angiopathy (CAA).
Methods:
Targeted pathologic examination was performed aided by the use of ex vivo MRI.
Results:
Severe CAA was observed mainly involving the leptomeningeal vessels and, to a far lesser extent, cortical vessels, with no amyloid plaques or neurofibrillary tangles.
Conclusions:
This leptomeningeal pattern of β-amyloid deposition coupled with multiple large hemorrhages demonstrates unique pathophysiologic characteristics of CAA associated with the Piedmont-type mutation, suggesting a potential association between leptomeningeal CAA and larger ICHs.
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