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. 2020 Aug 24;77(12):1–5. doi: 10.1001/jamaneurol.2020.3023

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.

a

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.