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

From the Service de Neurologie (Drs. Ellie, Camou, and Rummens), Centre Hospitalier de la Côte Basque, Bayonne; Laboratoire de Neuropathologie (Dr. Vital), CHU Bordeaux; and Laboratoire de Biochimie Génétique (Drs. Grateau, Delpech, and Valleix), CHU Cochin, Paris, France.

Address correspondence and reprint requests to Dr. Emmanuel Ellie, Service de Neurologie, Centre Hospitalier de la Côte Basque, Avenue de l’interne Jacques Loeb, 64100 Bayonne, France; e-mail: eellie001{at}CHCB.rss.fr

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).

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