| Autor: |
Kevin M Biglan, Ying eZhang, Jeffery eLong, Michael eGeschwind, Gail eKang, Annie eKilloran, Wenjing eLu, Elizabeth eMcCusker, James A Mills, Lynn A Raymond, Claudia eTesta, Joanne eWojcieszek, Jane S Paulsen |
| Jazyk: |
angličtina |
| Rok vydání: |
2013 |
| Předmět: |
|
| Zdroj: |
Frontiers in Aging Neuroscience, Vol 5 (2013) |
| Druh dokumentu: |
article |
| ISSN: |
1663-4365 |
| DOI: |
10.3389/fnagi.2013.00012 |
| Popis: |
Participants with the gene expansion for Huntington disease (HD) but not yet diagnosed were evaluated annually. Unidimensional diagnosis (UD) was a motor diagnosis defined as a diagnostic confidence level (DCL) of 4 (unequivocal motor signs, ≥99% confidence) on the standardized motor exam of the Unified Huntington Disease Rating Scale (UHDRS). Multidimensional diagnosis (MD) was defined as answering yes on Question 80 (Q80) of the UHDRS, ≥99% confidence of manifest HD based on the entire UHDRS. Motor, cognitive, and behavioral measures of phenotype at first diagnosis were compared by t-tests between participants diagnosed via motor exam (UD) and those diagnosed via multidimensional input (MD). Cluster analysis identified clusters based on UHDRS domains.186 participants received a diagnosis of HD during a maximum of 6.4 years of follow- up. In 108 (58.1%) the diagnosis by MD and UD occurred simultaneously, while in 69 (37.1%) the diagnosis by MD occurred prior to UD. Participants who were diagnosed by MD prior to UD were less impaired on motor (12.2±6.7 vs 22.4±9.3, p |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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