Title |
Posterior cortical atrophy as a primary clinical phenotype of corticobasal syndrome with a progranulin gene rs5848 TT genotype
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Published in |
Orphanet Journal of Rare Diseases, February 2016
|
DOI | 10.1186/s13023-016-0396-0 |
Pubmed ID | |
Authors |
Guoping Peng, Ping Liu, Fangping He, Benyan Luo |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United Kingdom | 3 | 50% |
United States | 2 | 33% |
Unknown | 1 | 17% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 3 | 50% |
Scientists | 2 | 33% |
Science communicators (journalists, bloggers, editors) | 1 | 17% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 25 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 5 | 20% |
Student > Doctoral Student | 3 | 12% |
Other | 2 | 8% |
Librarian | 2 | 8% |
Student > Bachelor | 2 | 8% |
Other | 4 | 16% |
Unknown | 7 | 28% |
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Neuroscience | 4 | 16% |
Psychology | 2 | 8% |
Linguistics | 1 | 4% |
Nursing and Health Professions | 1 | 4% |
Other | 3 | 12% |
Unknown | 8 | 32% |