TY - JOUR
T1 - Transthyretin asn90 variant
T2 - Amyloidogenic or non-amyloidogenic role
AU - Bersano, A.
AU - Del Bo, R.
AU - Ballabio, E.
AU - Cinnante, C.
AU - Lanfranconi, S.
AU - Comi, G. P.
AU - Baron, P.
AU - Bresolin, N.
AU - Candelise, L.
PY - 2009/9/15
Y1 - 2009/9/15
N2 - A number of mutations were described in the TTR gene. They were generally related to a variety of inherited syndromes named 'familial TTR-related amyloidoses'. Although TTR mutations were mostly associated with familial amyloid polyneuropathy (FAP), these molecular variants were also found in patients with recurrent stroke, subarachnoidal bleeding and radiolological findings of cerebral, cerebellar, cortical-subcortical infarctions and hemosiderosis. We describe a 46 y.o man with recurrent cerebral haemorrhages carrying Asn90His variant of TTR gene. This mutation has been reported both in FAP and asymptomatic subjects raising the doubt on the possible amyloidogenetic role of this variant. The absence of mutation in the patient's father, who had a history of unexplained cerebral haemorrhage and the lack of symptoms and sign of cerebral bleeding in the two patient's sisters, carrying the same mutation, seem to support the hypothesis that His90Asn TTR mutation do not have an impact in amyloid formation. It has still to be established whether other gene variants in our patient could act synergistically with His90Asn TTR mutation in increasing the risk of CNS haemorrhages.
AB - A number of mutations were described in the TTR gene. They were generally related to a variety of inherited syndromes named 'familial TTR-related amyloidoses'. Although TTR mutations were mostly associated with familial amyloid polyneuropathy (FAP), these molecular variants were also found in patients with recurrent stroke, subarachnoidal bleeding and radiolological findings of cerebral, cerebellar, cortical-subcortical infarctions and hemosiderosis. We describe a 46 y.o man with recurrent cerebral haemorrhages carrying Asn90His variant of TTR gene. This mutation has been reported both in FAP and asymptomatic subjects raising the doubt on the possible amyloidogenetic role of this variant. The absence of mutation in the patient's father, who had a history of unexplained cerebral haemorrhage and the lack of symptoms and sign of cerebral bleeding in the two patient's sisters, carrying the same mutation, seem to support the hypothesis that His90Asn TTR mutation do not have an impact in amyloid formation. It has still to be established whether other gene variants in our patient could act synergistically with His90Asn TTR mutation in increasing the risk of CNS haemorrhages.
KW - Amyloidosis
KW - Asn 90His
KW - Cerebral hemorrhage
KW - Transthyretin
UR - http://www.scopus.com/inward/record.url?scp=67849109839&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=67849109839&partnerID=8YFLogxK
U2 - 10.1016/j.jns.2009.04.015
DO - 10.1016/j.jns.2009.04.015
M3 - Article
C2 - 19428025
AN - SCOPUS:67849109839
VL - 284
SP - 113
EP - 115
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
SN - 0022-510X
IS - 1-2
ER -