ArticleOrphanet journal of rare diseases2016
Posterior cortical atrophy as a primary clinical phenotype of corticobasal syndrome with a progranulin gene rs5848 TT genotype.
Article in Orphanet journal of rare diseases, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed.
- Perspectives and a Systematic Scoping Review on Longitudinal Profiles of Posterior Cortical Atrophy Syndrome.Current neurology and neuroscience reports · 2022Article
- [Posterior cortical atrophy-a heterogeneous syndrome : A case series].Der Nervenarzt · 2019Article
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4 authors.
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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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