Article: MAPT
2019 Volume 5, Issue 4, Page(s) e347
Abstract: Objective: Patients with corticobasal syndrome (CBS) present with heterogeneous clinical features, including asymmetric parkinsonism, dyspraxia, aphasia, and cognitive impairment; to better understand the genetic etiology of this rare disease, we ... ...
| Abstract | Objective: Patients with corticobasal syndrome (CBS) present with heterogeneous clinical features, including asymmetric parkinsonism, dyspraxia, aphasia, and cognitive impairment; to better understand the genetic etiology of this rare disease, we undertook a genetic analysis of microtubule-associated protein tau ( Methods: We performed a genetic evaluation of Results: We identified 2 patients with CBS heterozygous for a rare mutation in Conclusions: We report 2 CBS cases carrying the rare p.V363I |
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| Language | English |
| Publishing date | 2019-06-25 |
| Publishing country | United States |
| Document type | Journal Article |
| ZDB-ID | 2818607-2 |
| ISSN | 2376-7839 |
| ISSN | 2376-7839 |
| DOI | 10.1212/NXG.0000000000000347 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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