Diffuse metabolic changes in the brain of patients with familial amyloid polyneuropathy. A proton MRSI study

Journal of the Neurological Sciences
Anna MazzeoNicola De Stefano

Abstract

To assess brain metabolic abnormalities in patients with familial amyloid polyneuropathy (FAP) due to the transthyretin (TTR) gene mutations. The TTR-FAP has variable phenotypic expression, which includes abnormalities of the central nervous system (CNS). Several conventional MRI studies have shown brain abnormalities, probably secondary to amyloid accumulation in leptomeningeal and subarachnoid vessels. However, TTR-related amyloid deposits do not seem to significantly affect the brain parenchyma and a prominent CNS impairment is considered to be rare in TTR amyloidosis. We performed proton MR spectroscopic imaging (1H-MRSI) in the central brain of four unrelated TTR-FAP patients with either minimal or no signs of neurological involvement and eight age- and sex-matched normal controls (NC). Metabolic changes were assessed in the entire volume of interest (VOI) and in the frontal, periventricular and posterior white matter (WM). Conventional MRI was normal in 2 patients and showed minimal WM lesions in the remaining 2 patients. 1H-MRSI showed N-acetylaspartate to creatine ratio (NAA/Cr) decreases in the central brain VOI in all TTR-FAP patients (p < 0.005). These NAA/Cr decreases were homogeneous in all WM regions (p < 0.05 for...Continue Reading

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Citations

Jun 27, 2008·Journal of the Neurological Sciences·Kazuma NakagawaSteven M Greenberg
Nov 14, 2016·JACC. Cardiovascular Imaging·David S Goldstein
Jul 30, 2021·Acta Neurologica Scandinavica·Hacer DurmuşYeşim Gülşen Parman

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