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Familial Leptomeningeal Amyloidosis With a Transthyretin Variant Asp18Gly Representing Repeated Subarachnoid Haemorrhages With Superficial Siderosis JNNP 75:1463-1466, Jin,K.,et al, 2004 See this aricle in Pubmed Article Abstract This is the second report of familial leptomeningeal amyloidosis with an Asp18Gly TTR gene mutation, clinically causing only CNS symptoms. Repeated SAH from fragile veins on the dorsal surface of the spinal cord seemed to induce superficial siderosis of the CNS. So far, there have been two reliable hallmarks leading to the diagnosis of leptomeningeal amyloidosis: diffuse leptomeningeal enhancement on contrast MRI and greatly increased CSF protein content. This study has contributed a third hallmark: the presence of superficial siderosis is useful in diagnosing leptomeningeal amyloidosis.

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(click to filter results - removes previous filter) amyloidosis amyloidosis,oculoleptomeningeal,familial familial gene mutation hemosiderosis of CNS,superficial meningeal enhancement MRI,abnormal MRI,contrast enhanced subarachnoid hemorrhage subarachnoid hemorrhage,recurrent

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