Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu)
- 10 July 2001
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 57 (1) , 135-137
- https://doi.org/10.1212/wnl.57.1.135
Abstract
CNS involvement is rare in systemic amyloidoses due to transthyretin (TTR) mutation and manifests as a combination of dementia, seizures, and myelopathy. The authors report two French siblings who experienced recurrent subarachnoid hemorrhages as the main clinical feature. Brain specimens showed that the leptomeningeal vessels walls were thickened by amyloid deposits, and sequencing of the TTR exons showed a heterozygous single base-pair transition from G to A (codon 53), resulting in a glycine for glutamic acid substitution (G53E).Keywords
This publication has 8 references indexed in Scilit:
- Transthyretin amyloidosis and superficial siderosis of the CNSNeurology, 1999
- Oculoleptomeningeal Amyloidosis Associated With a New Transthyretin Variant Ser64Archives of Neurology, 1999
- Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosisBrain, 1999
- Transthyretin amyloidosis: A new mutation associated with dementiaAnnals of Neurology, 1997
- Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR Asp18Gly)Neurology, 1996
- Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin geneNeurology, 1996
- Transthyretin amyloidosisAmyloid, 1996
- Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplificationGenomics, 1989