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Open Access 01-12-2016 | Letter to the Editor

Posterior cortical atrophy as a primary clinical phenotype of corticobasal syndrome with a progranulin gene rs5848 TT genotype

Authors: Guoping Peng, Ping Liu, Fangping He, Benyan Luo

Published in: Orphanet Journal of Rare Diseases | Issue 1/2016

Abstract

Posterior cortical atrophy (PCA) represents a special clinicoradiologic syndrome characterized by progressive visuospatial and visuoperceptual deficits. PCA and corticobasal syndrome (CBS) may share similar pathogenetic mechanisms. We report the clinical, neuropsychological, imaging, and genetic features of a patient with initial visual problems, who further developed other cognitive impairments and asymmetric extrapyramidal signs fitting into the diagnosis of CBS. Genetic testing revealed homozygous for the T allele of the rs5848 GRN variant. This study provided an evidence for CBS belonging to the clinical spectrum of GRN genetic variant and demonstrated CBS may initially present with symptoms of PCA in rare cases.

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Title: Posterior cortical atrophy as a primary clinical phenotype of corticobasal syndrome with a progranulin gene rs5848 TT genotype
Authors: Guoping Peng
Ping Liu
Fangping He
Benyan Luo
Publication date: 01-12-2016
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2016
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-016-0396-0

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Posterior cortical atrophy as a primary clinical phenotype of corticobasal syndrome with a progranulin gene rs5848 TT genotype

Abstract

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Abstract

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