Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease

A 20‐year‐old North American patient developed rapidly progressive cognitive decline and pronounced ataxia, a phenotype compatible with prion disease. No structural changes were found in the PRNP gene, which excludes genetic prion disease, but the patient's PRNP codon 129 Met/Met genotype is kn...

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Veröffentlicht in:	Clinical genetics 2004-12, Vol.66 (6), p.496-501
Hauptverfasser:	Shatunov, A, Fridman, EA, Pagan, FI, Leib, J, Singleton, A, Hallett, M, Goldfarb, LG
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Amyloid - genetics Biological and medical sciences Case studies Chromosomes, Human, Pair 6 - genetics Creutzfeldt-Jakob Syndrome - genetics Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Disease DNA rearrangement Female General aspects. Genetic counseling Genetics Haplotypes Humans insertion/duplication Medical genetics Medical sciences Mutation Neurology Pedigree Phenotype Prion Proteins Prions Protein Precursors - genetics spinocerebellar ataxia Spinocerebellar Ataxias TATA-box binding protein TATA-Box Binding Protein - genetics Trinucleotide Repeat Expansion variant Creutzfeldt-Jakob disease
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