Table 3 Clinical manifestation of patients with COL6A3 variants that are likely pathogenic
From: Study of the collagen type VI alpha 3 (COL6A3) gene in Parkinson’s disease
Gender | Age of onset | Amino Acid Change | Disease duration | Parkinsonian features | Dystonia feature | Levodopa response |
|---|---|---|---|---|---|---|
Female | 59 | R928H | 5 | bradykinesia and rigidity, Loss of smell, sleep disturbance and constipation | none | good |
Female | 57 | A1031T | 2 | right lower limb tremor and slightly impaired gait | right foot dystonia | not taken |
Male | 47 | F1236S | 2 | right limbs resting tremor | none | not taken |
Female | 47 | R1656Q | 4 | tremor, rigidity and bradykinesia, mainly in the right limb; constipation | right foot dystonia | good |
Male | 49 | R1699C | 3 | right limb resting tremor and bradykinesia; loss of smell and fatigue | none | good |
Male | 45 | R1735Q | 3 | bradykinesia and impaired gait, pain | none | good |
Male | 56 | G1898R | 7 | hallucinations, dementia, insomnia and slurred speech, bradykinesia and rigidity | none | not good |