Table 1.
Clinical Characteristics of Adult-Onset Leukoencephalopathy Patients With NOTCH2NLC GGC Repeat Expansions Identified in the SNUH Cohort
| ID | Sex/onset age, y | Expanded repeat counts | Initial symptom | EE | HA | Fever | CI | VD | Tremor | Abnormal gait | Pism | Dementia | PN/MW | UI/FI |
| P01 | M/34 | 87 | CI | + | + | − | + | + | − | − | − | − | + | − |
| P02 | F/76 | 103 | CI | + | + | + | + | + | − | + | − | − | − | + |
| P03a | F/50 | 90 | Tremor | + | + | + | + | + | + | − | − | − | − | − |
| P04 | F/55 | 106 | Dysarthria | + | + | + | + | − | − | − | − | − | − | − |
| P05 | M/65 | 94 | Aphasia, apraxia | + | + | + | + | + | − | − | − | − | − | − |
| P06 | F/58 | 163 | Dementia | + | + | + | + | + | − | + | + | + | − | + |
| P07 | M/59 | 98 | Nausea, HA, CI | + | + | + | + | + | + | + | − | − | − | − |
| P08 | F/57 | 172 | Tremor | − | − | − | − | + | + | − | + | − | − | − |
| P09a | F/51 | 135 | Tremor | − | − | − | − | − | + | + | − | − | − | − |
| P10a | M/68 | 160 | De | − | − | − | + | − | − | + | − | + | − | + |
| P11 | F/60 | 155 | Tremor | − | + | + | + | − | + | − | − | − | − | − |
| P12 | M/62 | 125 | HA | − | + | − | + | − | − | − | − | − | − | − |
| P13 | M/52 | 166 | Neck, lumbar pain | − | − | − | − | − | − | + | − | − | + | − |
| P14 | F/57 | 142 | Ataxia | − | − | − | + | − | − | + | − | − | − | − |
| P15 | F/58 | 115 | VD | − | − | − | + | + | − | − | − | − | − | − |
| P16a | F/55 | 126 | CI, apraxia | − | − | − | + | − | + | + | + | − | + | − |
Abbreviations: CI = cognitive impairment; EE = encephalitis-like episode; HA = headache; Pism = parkinsonism; PN/MW = peripheral neuropathy/muscle weakness; UI/FI = urinary/fecal incontinence; VD = visual disturbance.
Positive cases are expressed in bold.
a
Family history of neurologic disorders in their first-degree relatives or siblings.