Sleep
| Scale | Description | Use example |
|---|---|---|
| PDSS-2 | Parkinson's disease sleep scale2 | Example PASADENA |
Ataxia
SARA (Scale for the Assessment and Rating of Ataxia)
| Scale | Reference | Description | Use example |
|---|---|---|---|
| (original) SARA | (Schmitz-Hübsch, 2006 #1265) | eight items that yield a total score of 0 (no ataxia) to 40 (most severe ataxia): 1: gait (score 0 to 8), 2: stance (score 0 to 6), 3: sitting (score 0 to 4), 4: speech disturbance (score 0 to 6), 5: finger chase (score 0 to 4), 6: nose-finger test (score 0 to 4), 7: fast alternating hand movements (score 0 to 4), 8: heel-shin slide (score 0 to 4) | |
| k-SARA From original SARA | (Kim, 2014 #1264) | ||
| Modified SARA | Ataxia Study Group. Scale for the Assessment and Rating of Ataxia. http://www.ataxia-study-group.net/html/about/ataxiascales/sara/SARA.pdf | 0 (no ataxia) to 40 (most severe ataxia)., original version과 차이 불명, (그냥 Ataxia Study Group에서 최신판 다운받으면 되는 듯) 그런데 항목 동일한 듯 함 | Venglustat GD P2 TRIAL (leap), 내질문에 거의 1정도라고? |
Neuropsychiatric Inventory (NPI)
- The NPI is administrated to caregivers of dementia patients.
PDQ39 (Parkinson’s Disease Questionnaire 39)
- PDQ39 is a 39-item self-report questionnaire assessing PD-specific health related quality of life over the last month.
- Increase as symptom progressed
- Available PDQ39 scores in AMP-PD
| Name | Description |
|---|---|
| pdq39_mobility_score | PDQ-39_Total Score_Mobility |
| pdq39_adl_score | PDQ-39_Total Score_Activities Of Daily Living (ADL) |
| pdq39_emotional_score | PDQ-39_Total Score_Emotional Well Being |
| pdq39_stigma_score | PDQ-39_Total Score_Stigma |
| pdq39_social_score | PDQ-39_Total Score_Social Support |
| pdq39_cognition_score | PDQ-39_Total Score_Cognitive Impairment (Cognitions) |
| pdq39_communication_score | PDQ-39_Total Score_Communication |
| pdq39_discomfort_score | PDQ-39_Total Score_Bodily Discomfort |
- MCID, minimal clinically important difference;
| (Investigators, 2021 #1753)2nd-1st: PDQ-39 is from Horváth et al. Neuroepidemiology. 2017;48(1-2):1-8. | 4.2 |
SCOPA-AUT
- SCALES for outcome sin PD
- EXAMPLE : PASADENA
Table 1 Unified PD Rating Scale subscores
| Total UPDRS* | UPDRS domains and subscores | |
|---|---|---|
| Facial expression (4 points) | Facial expression (4 points) | Subscore A (80 points) |
| Tremor at rest (20 points) | Tremor (28 points) | |
| Action or postural tremor (8 points) | ||
| Rigidity (20 points) | Rigidity (20 points) | |
| Hand movements (8 points) | Bradykinesia (28 points) | |
| RAM of hands (8 points) | ||
| Leg agility (8 points) | ||
| Body bradykinesia and hypokinesia (4 points) | ||
| Speech (4 points) | Speech (4 points) | Subscore B (20 points) |
| Arising from a chair (4 points) | Axial impairment (16 points) | |
| Posture (4 points) | ||
| Postural stability (4 points) | ||
| Gait (4 points) | ||
* Each single test of the UPDRS is rated from 0 (normal) to 4 (severe impairment); tremor at rest is evaluated in the four limbs and face, rigidity is evaluated in the four limbs and neck, and other tests are evaluated bilaterally either in the upper or lower limbs.
RAM = rapid alternating movements; UPDRS = Unified PD Rating Scale.
Schwab and England ADL
- Modified Schwab and England ADL score to assess functional disability
- MCID, minimal clinically important difference;
| (Investigators, 2021 #1753)2nd-1st: Modified Schwab and England ADL score is from Shulman et al. Arch Neurol. 2010 Jan;67(1):64-70. | 10 |
Unified Dystonia Rating Scale (UDRS)
- 죄신 version: MDS site 에서 얻는듯 https://www.movementdisorders.org/MDS/MDS-Rating-Scales/Unified-Dystonia-Rating-Scale-UDRS-.htm
- Original ({Comella, 2003 #1292}) 이후에 new version 없다는 듯.
- Each of 14 body regions are rated for dystonia severity and duration. The proximal and distal limbs are given separate ratings. Ratings for each body region are totaled for an overall rating of dystonia severity.
Oxidative stress biomarkers
| (Frijhoff, 2015 #2214) good review |
PADD
| 201015 |
|
Pathogenicity of variant
- ACMG (American College of Medical Genetics and Genomics) guideline {Richards, 2015 #1508}
Figure 1. Evidence Framework
following chart organizes each of the criteria by the type of evidence as well as the strength of the criteria for a benign (left side) or pathogenic (right side) assertion. Evidence code descriptions can be found in Tables 3 and 4. Abbreviations: BS, benign strong; BP, benign supporting; FH, family history; LOF, loss-of-function; MAF, minor allele frequency; path., pathogenic; PM, pathogenic moderate; PP, pathogenic supporting; PS, pathogenic strong; PVS, pathogenic very strong
| Benign | Pathogenic | |||||
|---|---|---|---|---|---|---|
| Strong | Supporting | Supporting | Moderate | Strong | Very Strong | |
| Population Data | MAF is too high for disorder BA1/BS1 OR observation in controls inconsistent with disease penetrance BS2 | Absent in population databases PM2 | Prevalence in affecteds statistically increased over controls PS4 | |||
| Computational And Predictive Data | Multiple lines of computational evidence | Multiple lines of computational evidence | Novel missense change at an amino acid residue where a different | Same amino acid change as an established | Predicted null variant in a gene where LOF is a | |
Uncertain Spans
- 위 Evidence Framework 표의 Computational/Predictive 행은 사진 하단에서 잘려 셀 안 문장 끝부분이 보이지 않는다 (예: “Multiple lines of computational evidence” 다음 단어, “where a different…”의 뒷부분, “established…”의 뒷부분, “where LOF is a…”의 뒷부분).
- UDRS 항목의 첫 줄 첫 단어 “죄신”은 한글 사진에서 그대로 읽힌다(원문이 “최신”의 오타 또는 다른 표기일 가능성이 있으나 사진 그대로 옮긴다).
- Modified SARA 행 Use example 셀의 “내질문에 거의 1정도라고?”는 메모 톤의 한국어 문구이며 끝의 ”?”가 원문에 그대로 있다.