Subtle neuropsychiatric and neurocognitive changes in hereditary gelsolin amyloidosis (AGel amyloidosis)

Hereditary gelsolin amyloidosis (AGel amyloidosis) is an autosomal dominant form of systemic amyloidosis caused by a c.640G>A or c.640G>T mutation in the gene coding for gelsolin. Principal clinical manifestations include corneal lattice dystrophy, cranial neuropathy and cutis laxa with vascul...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Mari Kantanen, Sari Kiuru-Enari, Oili Salonen, Markku Kaipainen, Laura Hokkanen
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: PeerJ Inc. 2014-07-01
Cyfres:PeerJ
Pynciau:
Hereditary amyloidosis
Gelsolin amyloidosis
Neuropsychological testing
Visuoconstructional problems
Depression
Magnetic resonance imaging
Mynediad Ar-lein:https://peerj.com/articles/493.pdf
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