Table. Clinical Features of Patients With Parkinson Disease and Notch Homolog 2 N-Terminal-Like C (NOTCH2NLC) Repeat Expansions Greater Than 40a.
Patient No. | Tremor-dominant PD | Age, decade | Age at onset, decade | Imaging results | Dementia | Peripheral neuropathy | NOTCH2NLC repeat size | No. (%) | |||
---|---|---|---|---|---|---|---|---|---|---|---|
GGC | GGA | AGC | Others | ||||||||
1 | Yes | 60s | 50s | MRI: normal | No | No | 122 | 102 (79.7) | 0 | 20 (15.6) | 6 (4.7) |
2 | Yes | 80s | 70s | MRI: periventricular ischemia, mild atrophy | No | No | 79 | 66 (83.5) | 0 | 13 (16.5) | 0 |
3 | No | 80s | 60s | CT: mild cerebral atrophy | Developed cognitive impairment in late 80s | No | 130 | 75 (57.7) | 0 | 55 (42.3) | 0 |
4 | Yes | 80s | 70s | MRI: subperiventricular ischemia | No | No | 64 | 61 (95.3) | 2 (1.6) | 1 (3.1) | 0 |
5 | Yes | 80s | 70s | No neuroimaging done | No | No | 62 | 62 (100) | 0 | 0 | 0 |
6 | Yes | 60s | 50s | No neuroimaging done | No | No | 60 | 59 (98.3) | 1 (1.7) | 0 | 0 |
7 | No | 60s | 50s | MRI: normal | No | No | 49 | 47 (95.9) | 2 (4.1) | 0 | 0 |
8 | Yes | 80s | 30s | CT: lacunar infarct in external capsule | No | No | 47 | NA | NA | NA | NA |
9 | No | 70s | 60s | CT: subcortical and periventricular ischemia | No | Yes (associated with diabetes) | 41 | 40 (97.5) | 1 (2.5) | 0 | 0 |
10 | No | 70s | 60s | MRI: periventricular ischemia | No | No | 47 | 45 (95.7) | 2 (4.3) | 0 | 0 |
11 | No | 60s | 60s | No neuroimaging done | No | No | 42 | NA | NA | NA | NA |
12 | No | 70s | 60s | CT: normal | No | No | 41 | 39 (92.9) | 2 (2.4) | 1 (4.8) | 0 |
13 | Yes | 70s | 70s | CT: chronic microvascular ischemia | No | No | 41 | NA | NA | NA | NA |
Abbreviations: CT, computed tomography; MRI, magnetic resonance imaging; NA, not available; PD, Parkinson disease.
All patients were ethnically Chinese and had no family history of Parkinson disease. They did not show any sign of ataxia or other complications, such as motor fluctuations or dyskinesias.