Ardalan-Shoja-Kiuru syndrome--hereditary gelsolin amyloidosis plus retinitis pigmentosa
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چکیده
منابع مشابه
Mutation in gelsolin gene in Finnish hereditary amyloidosis
Familial amyloidosis, Finnish type (FAF), is an autosomal dominant form of familial amyloid polyneuropathy. The novel amyloid fibril protein found in these patients is a degradation fragment of gelsolin, an actin-binding protein. We found a mutation (adenine for guanine) at nucleotide 654 of the gelsolin gene in genomic DNA isolated from five FAF patients. This site is polymorphic since the nor...
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Keywords Disease name and synonyms Diagnostic criteria/definition Differential diagnosis Etiology Clinical description Diagnostic methods Genetic counseling Prenatal diagnosis Management Unresolved questions References Abstract The syndrome of Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) is clinically heterogeneous but it is often characterized by a combination of sensory-motor neuropath...
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There has been no report about hereditary and clinical features of retinitis pigmentosa (RP) in Koreans. To evaluate these, data were collected from 365 RP patients including age, gender, visual acuity (VA), spherical equivalent (SE) of refractive errors, funduscopic findings, color vision test, visual field score (VFS) obtained from Goldmann perimetry, and the inheritance patterns from pedigre...
متن کاملSubtle 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 vascular fragility. Signs of minor CNS involvement have also been observed, possibly related to cerebral amyl...
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ژورنال
عنوان ژورنال: Nephrology Dialysis Transplantation
سال: 2007
ISSN: 0931-0509,1460-2385
DOI: 10.1093/ndt/gfm577