期刊
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
卷 78, 期 2, 页码 193-195出版社
B M J PUBLISHING GROUP
DOI: 10.1136/jnnp.2006.093500
关键词
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资金
- Medical Research Council [G0601943, G7900510] Funding Source: Medline
- Medical Research Council [G7900510] Funding Source: researchfish
- MRC [G7900510] Funding Source: UKRI
We report a novel transthyretin variant, Gly53Ala, in a 44-year-old British woman who presented with severe episodic headaches, often with focal neurological deficit, before developing progressive ataxia, depression, dementia and eventually peripheral neuropathy. Transthyretin amyloidosis was confirmed on biopsy of the heart muscle. Serum amyloid P component scintigraphy did not show visceral amyloid in extracardiac sites, but magnetic resonance imaging indicated diffuse leptomeningeal amyloidosis.
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