Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu).
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).
Ellie
E
E
Service de Neurologie, Centre Hospitalier de la Côte Basque, Bayonne, France. eellie001@CHCB.rss.fr
Camou
F
F
Vital
A
A
Rummens
C
C
Grateau
G
G
Delpech
M
M
Valleix
S
S
D000328:Adult; D019943:Amino Acid Substitution; D001483:Base Sequence / Q000235:genetics; D005260:Female; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D011228:Prealbumin / Q000235:genetics*; D012008:Recurrence; D013345:Subarachnoid Hemorrhage / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D014057:Tomography, X-Ray Computed
D011228:Prealbumin