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• W1990579434 abstract "Objective: To explore the clinical phenotype in individuals with huntingtin gene CAG repeat lengths between 27 and 35, a range that is termed “intermediate” and below one traditionally considered diagnostic of Huntington disease (HD). Background: The Prospective Huntington Disease At-Risk Observational Study (PHAROS) found that patients with intermediate CAG lengths overlapped with those diagnosed as HD (≤ 37 CAG repeats) on the Unified Huntington's Disease Rating Scale (UHDRS) behavioral measures. Furthermore, several patients with intermediate CAG repeats demonstrating clinical (and pathological) evidence of HD have been reported. Methods: We reviewed all cases with intermediate CAG repeats who have presented to our clinic, as well as those reported in the literature. Results: We describe 4 patients with intermediate repeats evaluated at our center whose clinical features were highly suggestive of HD. Investigations for HD phenocopies were negative. Anticipation was demonstrated in 1 case with supportive neuropathological evidence of HD. Additionally, we describe the clinical features of 5 other patients reported in the literature. Conclusion: Individuals with huntingtin gene CAG repeats in the intermediate (27-35) range should be considered at risk for the development of HD, particularly if they have a family history of HD, whether they exhibit clinical features of the disease." @default.
• W1990579434 created "2016-06-24" @default.
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• W1990579434 date "2011-09-01" @default.
• W1990579434 modified "2023-09-26" @default.
• W1990579434 title "Exploring the Correlates of Intermediate CAG Repeats in Huntington Disease" @default.
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• W1990579434 doi "https://doi.org/10.3810/pgm.2011.09.2466" @default.
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