dystransthyretinemic euthyroidal hyperthyroxinaemia

A hereditary form of generalised amyloidosis (OMIM:105210) caused by transthyretin (amyloid) deposition, leading to amyloid polyneuropathy, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis and leptomeningeal amyloidosis, with amyloid in the walls of leptomeningeal vessels in pia arachnoid and subpial regions. Some patients also develop vitreous amyloid deposition leading to visual impairment (oculoleptomeningeal amyloidosis).
Clinical features
Seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humour.
Molecular pathology
Defects of TTR, which encodes transthyretin, cause dystransthyretinemic euthyroidal hyperthyroxinaemia.

单词	dystransthyretinemic euthyroidal hyperthyroxinaemia
释义	dystransthyretinemic euthyroidal hyperthyroxinaemia dystransthyretinemic euthyroidal hyperthyroxinaemia A hereditary form of generalised amyloidosis (OMIM:105210) caused by transthyretin (amyloid) deposition, leading to amyloid polyneuropathy, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis and leptomeningeal amyloidosis, with amyloid in the walls of leptomeningeal vessels in pia arachnoid and subpial regions. Some patients also develop vitreous amyloid deposition leading to visual impairment (oculoleptomeningeal amyloidosis). Clinical features Seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humour. Molecular pathology Defects of TTR, which encodes transthyretin, cause dystransthyretinemic euthyroidal hyperthyroxinaemia.
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