Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu).

Article Details

Citation

Ellie E, Camou F, Vital A, Rummens C, Grateau G, Delpech M, Valleix S

Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu).

Neurology. 2001 Jul 10;57(1):135-7.

PubMed ID
11445644 [ View in PubMed
]
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).

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
TransthyretinP02766Details