Table 1 Clinical information of the 38 patients and the affected family members
Case ID, Age at last follow-up, Gender | Onset symptom | Age at disease onset | Age at seizure onset | Seizure type | Mental and motor development (regression age) | Cerebellar ataxia | Loss of vision | Brain MRI | Diagnosis of disease |
|---|---|---|---|---|---|---|---|---|---|
P1, 3y5m, M | Mental and motor developmental regression | 7 m | 3y4 m | MS, FS | Regression (1y4 m) | Yes | Yes | Cerebral atrophy | CLN1 disease |
P2, 2y8m, F | Mental and motor developmental regression | 1y5m | 2y5m | MS | Regression (1y5m) | Yes | No | Cerebral and cerebellar atrophy | CLN1 disease |
P3, 4y2m, M | Seizure | 3y6 m | 3y6 m | MS, FS | Regression (4y) | Yes | No | Cerebellar atrophy | CLN2 disease |
P4, 4y5m, F | Seizure | 2y6 m | 2y6 m | MS, FS | Regression (3y) | Yes | No | Cerebral and cerebellar atrophy | CLN2 disease |
P5, 3y10m, F | Seizure | 2y8m | 2y8m | MS, GTCS | Regression (3y) | Yes | No | Cerebral and cerebellar atrophy | CLN2 disease |
P6–1, 6y, F | Seizure | 3y4 m | 3y4 m | MS, FS | Regression (3y5m) | Yes | No | Cerebral and cerebellar atrophy | CLN2 disease |
P6–2, 2y9m, F | / | / | / | No seizure | Normal | No | No | NA | / |
P7, 4y5m, M, | Seizure | 3y3 m | 3y3 m | MS, FS | Regression (3y5m) | Yes | No | Cerebellar atrophy | CLN2 disease |
P8, 4y5m, M | Seizure | 2y9m | 2y9m | GTCS, MS | Regression (4y) | Yes | No | Cerebral and cerebellar atrophy | CLN2 disease |
P9, 3y4 m, F | Seizure | 2y11m | 2y11m | MS, FS, GTCS | Regression (3y) | Yes | No | Cerebral atrophy | CLN3 disease |
P10, 6y, M | Mental developmental regression | 5y7 m | 5y11m | MS | Regression (5y7 m) | Yes | Yes | Cerebellar atrophy | CLN5 disease |
P11, 7y6 m, M | Motor developmental regression | 4y6 m | 5y | MS, FS | Regression (4y6 m) | Yes | No | Cerebellar atrophy | CLN6 disease |
P12, 11y10m, F | Seizure | 7y8m | 7y8m | MS, FS, GTCS | Regression (9y6 m) | Yes | Yes | Normal (11y10m) | CLN7 disease |
P13–1, 6y9m, F | Seizure | 2y6 m | 2y6 m | MS, Abs, GTCS | Regression (3y) | NA | Yes | Cerebral and cerebellar atrophy | CLN7 disease |
P13–2, 4y5m, M | Motor developmental regression | 2y | 4y | MS, Abs | Regression (2y) | NA | No | Cerebral and cerebellar atrophy | CLN7 disease |
P13–3, 7y, M | Seizure | 2y6 m | 2y6 m | MS | Regression (3y) | NA | Yes | NA | CLN7 disease? |
P14, 14y, F | Limb pain and motor developmental regression | 12y | 12y | MS, GTCS | Regression (12y) | Yes | Yes | Cerebellar atrophy | Sialidosis |
P15–1, 13y9m, F | Limb pain and motor developmental regression | 7y | 13y | MS, GTCS | Motor regression (7y) | Yes | Yes | Cerebellar atrophy | Sialidosis |
P15–2, 29y, M | Limb pain and motor developmental regression | 10y | 15y | MS | Motor regression (10y) | Yes | Yes | NA | Sialidosis |
P16–1, 12y, F | Seizure | 7y4 m | 7y4 m | FS, MS, GTCS | Regression (10y) | Yes | No | Cerebral and cerebellar atrophy | Gaucher disease type-III |
P16–2, 9y, M | Liver and spleen enlargement | NA | / | No seizure | Normal | No | No | NA | Gaucher disease type-I |
P17–1, 13y, F | Thrombocytopenia and spleen enlargement | 9y | 12y | FS, MS | Delayed | No | No | Normal (12y) | Gaucher disease type-III |
P17–2, 11y, M | EEG abnormality | 8y | / | No seizure | Normal | No | No | NA | Gaucher disease type-I |
P18–1, 6y, F | Motor developmental regression | 1y2m | 4y | MS, aAbs | Regression (1y2m) | Yes | No | Normal (4y) | SMA-PME |
P18–2, 4y, M | Motor developmental regression | 2y6 m | 4y | MS | Regression (2y6 m) | Yes | No | NA | SMA-PME |
P19, 3y5m, F | Seizure | 3 m | 3 m | MS, Abs, FS | Delayed | Yes | No | Normal (2y) | PME |
P20, 8y3 m, F | Seizure | 4 m | 4 m | Ms | Delayed | Yes | No | Normal (8y) | PME |
P21, 12y6 m, F | Seizure | 11y9m | 11y9m | MS, FS | Regression (11y) | Yes | No | Normal (12y) | PME |
P22, 13y3 m, F | Seizure | 10y | 10y | MS, GTCS | Delayed | Yes | No | Normal (13y) | PME |
P23, 10y6 m, F | Seizure | 1y5m | 1y5m | MS, AS, aAbs | Regression (1y7 m) | Yes | No | Normal (9y) | PME |
P24, 3y, F | Seizure | 2y1m | 2y1m | MS, AS | Regression (2y3 m) | Yes | No | Normal (3y) | PME |
P25–1, 3y8m, F | Seizure | 2y | 2y | MS | Regression (2y3 m) | Yes | No | Normal (2y) | PME |
P25–2, 9y11m, M | Seizure | 1y9m | 1y9m | MS, AS, aAbs | Regression (3y5m) | Yes | No | Normal (2y) | PME |
P26, 6y4 m, M | Seizure | 2y | 2y | MS, AS | Regression (2y5m) | Yes | No | Normal (6y) | PME |
P27, 10y3 m, F | Seizure | 7 m | 7 m | MS, FS | Regression (9y) | Yes | No | Brain atrophy with abnormal signals in cerebellum | PME |
P28, 5y, M | Seizure | 3 m | 3 m | MS, FS | Delayed | Yes | No | Brain atrophy with abnormal signals in cerebellum | PME |
P29–1, 22y, F | Seizure | 11y | 11y | MS, GTCS | Regression (11y) | Yes | No | Cerebral and cerebellar atrophy | PME |
P29–2, 13y, M | Seizure | 8y | 8y | MS, GTCS | Regression (8y) | Yes | No | Cerebral and cerebellar atrophy | PME |
P30–1, 15y6 m, M | Seizure | 6y7 m | 6y7 m | MS, FS, GTCS | Regression (7y) | Yes | No | Cerebral and cerebellar atrophy | DRPLA |
P30–2, 32y, M | Mental and motor developmental regression | 30y | / | No seizure | Regression (30y) | Yes | No | Cerebral and cerebellar atrophy | / |
P30–3, 18y, M | Seizure | 10y | 10y | NA | Regression (10y) | NA | NA | NA | DRPLA |
P30–4, 60y, M | Mental and motor developmental regression | 40y | / | No seizure | Regression (40y) | Yes | No | NA | / |
P30–5, 52y, M | Mental and motor developmental regression | 40y | / | No seizure | Regression (40y) | Yes | No | NA | / |
P30–6, 60y, F | Mental and motor developmental regression | 45y | / | No seizure | Regression (45y) | Yes | No | NA | / |
P31–1, 9y8m, M | Seizure | 3y | 3y | MS, FS, GTCS | Regression (4y) | Yes | No | Cerebral and cerebellar atrophy | DRPLA |
P31–2, 6y, M | Mental and motor developmental regression | 2y | 6y | MS, aAbs | Regression (2y) | Yes | No | NA | DRPLA |
P31–3, 34y, M | Seizure | 27y | 27y | MS, FS | Regression (30y) | Yes | No | NA | DRPLA |
P31–4, 40y, M | Mental and motor developmental regression | NA | 30y | NA | Regression (NA) | NA | NA | NA | DRPLA |
P31–5, 21y, F | Mental and motor developmental regression | NA | 8y | NA | Regression (NA) | NA | NA | NA | DRPLA |
P32–1, 16y, M | Seizure | 11y | 11y | MS, FS | Regression (11y) | Yes | No | Cerebral and cerebellar atrophy | PME |
P32–2, 23y, F | Seizure | 14y | 14y | MS, FS | Regression (14y) | Yes | No | Cerebral and cerebellar atrophy | PME |
P33, 3y2m, M | Seizure | 6 m | 6 m | MS, ES | Regression (1y11m) | Yes | NA | Cerebral and cerebellar atrophy | PME |
P34, 9y3 m, F | Seizure | 2y | 2y | MS | Regression (6y) | Yes | No | Cerebral and cerebellar atrophy | PME |
P35, 7y7 m, F | Seizure | 6y7 m | 6y7 m | MS, FS | Delayed | NA | No | Normal (7y) | PME |
P36, 6y8m, M | Seizure | 5y6 m | 5y6 m | MS, GTCS | Delayed | Yes | No | Cerebral and cerebellar atrophy | PME |
P37, 2y10m, M | Seizure | 4 m | 4 m | MS, FS | Delayed | No | Yes | Cerebral atrophy | PME |
P38, 5y5m, F | Seizure | 6 m | 6 m | MS, TS, ES | Delayed | Yes | Yes | Cerebral atrophy | PME |