Huntington disease: from premanifest to diagnosis and early care
| Autor: | Elizabeth A McCusker |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: | |
| Zdroj: | Advances in Clinical Neuroscience & Rehabilitation, Vol , Iss (2019) |
| Druh dokumentu: | article |
| ISSN: | 1473-9348 2397-267X |
| DOI: | 10.47795/NVUA8510 |
| Popis: | Huntington disease (HD) has a prolonged premanifest phase. Detailed premanifest HD studies followed identification of the causal CAG repeat expansion in the Huntingtin gene in 1993 that allowed genetic testing. A better understanding of the years before clinical diagnosis and variation in disease presentations resulted. Information from these premanifest studies and new biomarkers may enable a wider definition of HD, earlier diagnosis and care, as well as better measures of progression in clinical trials. |
| Databáze: | Directory of Open Access Journals |
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