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MB Sample ID: SA244244
| Local Sample ID: | SC_20201109_HILICp_FMS_CSF_D07_HD_4 |
| Subject ID: | SU002531 |
| Subject Type: | Human |
| Subject Species: | Homo sapiens |
| Taxonomy ID: | 9606 |
| Gender: | Male and female |
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Collection:
| Collection ID: | CO002524 |
| Collection Summary: | CSF samples were collected from 60 participants as part of the CHDI HD-Clarity study. There were 16 PRE, 16 MAN, 16 LATE HD participants and 12 control participants. Disease stage was determined using the diagnostic confidence level (DCL), length of CAG expansion and burden of pathology calculated from (CAG expansion – 35.5) x Age. Control participants were individuals without a known history of Huntington Disease (HD). All HD participants have a CAG expansion of > 40. PRE participants were not motor manifest as indicated by a DCL of <4 and a burden of pathology of > 250. MAN participants had a DCL =4 and a total functional capacity (TFC) between 7-13. The LATE group had all the above criteria for MAN and a TFC score between 0-6. Repeat CSF and blood samples collected 4-8 weeks after a baseline (BL) visit are provided for all control and PRE participants. Participants’ age and gender are reported here. Three participants (2 PRE, 1 MAN) were taking supplemental vitamins; however, their metal levels were similar to those in their corresponding participant group and thus, the data from these participants are included. Basic demographics like age and gender were reported previously in addition to participants' scores on a battery of cognitive, behavioral and motor assessments including the symbol digit modality test (SDMT), Stroop Word Reading (SWR), total functional capacity (TFC), total motor score (TMS) and the recently developed cUHDRS. |
| Collection Protocol Filename: | Sample_Collection.pdf |
| Sample Type: | CSF |
| Storage Conditions: | -80℃ |
