Table 1 Clinical and genetic characteristics of individuals from families with HDLS
From: Clinicopathologic characterization and abnormal autophagy of CSF1R-related leukoencephalopathy
Family ID | Â | F1-T4153 | F2-T4033 | F3-R1092 | F4-T3538 | F5-T2980 | F6-T3893 | F7-T4244 | F8-T4265 | F9-T4137 | F10-T3975 | Total | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Individual | Â | P1(II:2) | P2(II:3) | P3(II:2) | P4(II:3) | P5(II:1) | P6(II:1) | P7(III:1) | P8(II:4) | P9(II:1) | P10(II:4) | P11(II:1) | P12(II:2) | P13(II:3) | P14(III:3) | P15(III:1) | 15 |
Gender | Â | M | F | F | M | F | F | F | F | M | M | F | F | M | F | F | M: 5, F:10 |
Onset/duration |  | 29/2 | 30/2 | 30/2 | 46/4 | 36/2 | 42/2 | 35/2 | 38/4(Die) | 37/1 | 39/1 | 38/3 | 42/4(Die) | 45/2 | 24/3 | 27/8 | 35.9 ± 6.4/2.8 ± 1.7 |
Initial symptoms | Â | Left limb rigidity, gait dysfunction | Cognitive decline, dysarthria | Cognitive decline, speech & executive dysfunction | Gait dysfunction | Right limb weakness, rigidity | Cognitive decline, gait dysfunction | Dysarthria, gait dysfunction | Dysarthria | Cognitive decline, gait dysfunction | Memory loss | Memory loss, slow response | Indifference, bradykinesia, slow response | Left limb rigidity, weakness, gait dysfunction | Gait dysfunction | Gait dysfunction | / |
Clinical features during course of the illness | Personality and behavior changes | (+) reticence, forced laughter or crying | (+) | (+) | (+) inflexible, repeat utterance | (−) | (+) | (+) | (+) | (+) | (−) | (+) | (+) reticence | (+) forced laughter or crying, social withdrawal | (+) reticence, forced laughter or crying | (+) reticence, forced laughter or crying, social withdraw | 13/15 |
Dementia | (+) | (+) | (+) | (+) | (−) | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (−) | (+) | (+) | 13/15 | |
Depression/anxiety | (+) | (+) | (+) | (+) | (−) | (+) | (−) | (+) | (+) | (−) | (−) | (−) | (+) | (+) | (−) | 9/15 | |
Parkinsonism | (+) | (+) | (+) | (+) | (+) tremor, drag-to gait, rigidity, small handwriting | (+) bradykinesia, walking difficulty, instability | (+) walking difficulty, rigidity, instability | (+) | (−) | (−) | (+) mask-like face, bradykinesia | (+) mask-like face, bradykinesia | (+) rigidity, gait dysfunction, bradykinesia, tremor | (+) right gait dysfunction, rigidity, instability | (+) standing/walking difficulty, weakness, instability | 13/15 | |
Seizure | (+) | (−) | (−) | (−) | (−) | (−) | (−) | (−) | (−) | (−) | (−) | (−) | (−) | (+) | (+) | 3/15 | |
Dysphasia | (+) | (+) | (+) | (+) | (−) | (+) | (+) | (+) | (+) | (−) | (+) | (+) | (+) | (+) | (+) | 13/15 | |
MMSE/MoCA | Â | NA | 14/11 | NA | 25/22 | 17/NA | 15/NA | 15/19 | NA | NA | 28/25 | NA | NA | 23/15 | NA | 19/NA | 8/8 |
Neuroimage | White matter lesions | (+) | (+) | (+) | (+) | (+) | (+) | (+) | NA | (+) | (+) | (+) | (+) | (+) | (+) | (+) | 14/14 |
Corpus callosum | (−) | (+) | (+) | (−) | (−) | (+) | (+) | NA | (+) | (−) | (−) | (−) | (+) | (+) | (+) | 8/14 | |
Cerebellum | (−) | (−) | (−) | (−) | (−) | (−) | (−) | NA | (−) | (−) | (−) | (−) | (−) | (−) | (−) | 0/14 | |
Atrophy | (+) | (+) | (+) | (+) | (+) | (−) | (+) | NA | (+) | (−) | (+) | (+) | (+) | (+) | (+) | 12/14 | |
Calcification | (−) | (−) | (−) | (−) | (−) | (−) | (−) | NA | (−) | (−) | (−) | (−) | (−) | (−) | (+) | 1/14 | |
EMG/EEG |  | NA | NCV(−) | NA | NA | NCV(+) | NA | NA | NA | NA | NA | NA | NA | NCV(−) | NCV(−), EEG(+) | NCV(−), EEG(+) | NCV(1/5), EEG(2/2) |
CSF1R mutation |  | c.1907 T > A (p.I636N) | c.2026C > T (p.R676*) | c.2026C > T (p.R676*) | c.2342C > A (p.A781E) | c.2342C > T (p.A781V) | c.2381 T > C (p.I794T) | c.2381 T > C (p.I794T) | c.2381 T > C (p.I794T) | c.2381 T > C (p.I794T) | c.2381 T > C (p.I794T) | c.2381 T > C (p.I794T) | c.2381 T > C (p.I794T) | c.2468C > A (p.A823D) | c.2552 T > C (p.L851P) | c.2552 T > C (p.L851P) | / |