Table 1. Characteristics of patients with a partial deletion of SLC20A2.
| ID | Sex | Age at first neuropsychiatric signa | Age at last examination | Clinical summary | Calcification summary | TCS | Family history | Genetic status (SLC20A2) |
|---|---|---|---|---|---|---|---|---|
| ROU-1129-001 | M | 34 | 57 | - Migraine without aura - Major depressive episode (34 years) - Memory impairment, behavioral modification, dysarthria (55 years) | Le, Ca, Th, WM, Cb, Ve, Co | 57 | F | Heterozygous deletion of exon 2 c.(−265+1_−264−1)_(289+1_290-1)del (NM_001257180.1) |
| ROU-1129-002 | M | Unknown | 62 | - Alcohol abuse since adolescence, associated with epilepsy, cognitive impairment, gait disorder, and bradykinesia | Le, Ca, Th, Cb, Ve | 27 | F | Heterozygous deletion of exon 2 c.(-265+1_-264-1)_(289+1_290-1)del (NM_001257180.1) |
| ROU-1129-003 | F | Unknown | NA | - Migraine without aura - History of mood disorder, unspecified (not examined by a neurologist) | At least Le | NA | F | Heterozygous deletion of exon 2 c.(-265+1_-264-1)_(289+1_290-1)del (NM_001257180.1) |
| EXT-383-001 | F | 57 | 61 | Progressive cognitive decline with dysexecutive syndrome (cognitive and behavioral), slight head tremor, intermittent dystonia of the limbs, pyramidal signs, gait disorder, dysphagia | Le, Ca, Th, WM, Cb, Ve, Co | 54 | F | Heterozygous deletion of exon 2 c.(-265+1_-264-1)_(289+1_290-1)del (NM_001257180.1) |
| EXT-434-001 | M | 20 | 63 | - Migraine without aura - Intention tremor (20 years) - Progressive dysarthria, gait disorder, mild static cerebellar syndrome with intention tremor and akinetic-hypertonic syndrome, cognitive dysexecutive syndrome (45 years) | Le, Ca, Th, WM, Cb, Ve, Co | 58 | F | Heterozygous deletion of exon 4 c.(430+1_431-1)_(516+1_517-1)del (NM_006749.4) |
| EXT-434-002 | F | 54 | 75 | Behavioral modifications, progressive cognitive decline leading to dementia, akinetic-hypertonic syndrome, tetrapyramidal syndrome, dysarthria and gait disorder | Le, Ca, Th, WM, Cb, Ve, Co | 58 | F | Heterozygous deletion of exon 4 c.(430+1_431-1)_(516+1_517-1)del (NM_006749.4) |
| EXT-451-001 | M | 66 | 76 | Recurrent major depressive episodes, cerebellar static syndrome | Le, Ca, Th, WM, Cb, Ve, Co | 51 | S | Heterozygous deletion of exons 4–5 c.(430+1_431-1)_(613+1_614-1)del (NM_006749.4) |
Abbreviations: Ca, caudate; Cb, cerebellar hemispheres; Co, cortex; F, female; Le, lenticular; M, male; NA, not applicable; TCS, total calcification score; Th, thalamus; Ve, vermis; WM, white matter.
a
except for migraine.