From: Neuropsychology and MRI correlates of neurodegeneration in SPG11 hereditary spastic paraplegia
Patient no. | Gender | Age at onset (years) | Disease duration (years) | SPRS | MoCA | SPG11 variants | Imaging results | Additional symptoms |
---|---|---|---|---|---|---|---|---|
1 | m | 15 | 7 | 21 | 5 | c.733_734del (exon 4, p.M245fs)/c.4306_4307del (exon 25, p.Q1436fs) | TCC, enlarged ventricles | Bulbar speech, parkinsonism |
2 | f | 1 | 22 | 21 | 17 | c.3075dupA (exon 17, p.E1026fs)/c.6204A>G (exon 32, p.V2057Dfs) | TCC, periventricular white matter changes | Bulbar speech, epilepsy |
3 (twin of 2) | f | 1 | 22 | 17 | 15 | c.3075dupA (exon 17, p.E1026fs)/c.6204A>G (exon 32, p.V2057fs) | TCC, periventricular white matter changes | Bulbar speech, neuropathy |
4 | f | 19 | 29 | 36 | 14 | c.267G>A (exon 2, p.W89*)/c.1457-2A>G (intron 6, splice acceptor) | TCC, frontal cortical atrophy, periventricular white matter changes | Bulbar speech, dysphagia, neuropathy |
5 | m | 30 | 5 | 40 | 4 | c.5623C>T (exon 30, p.Q1875*)homozygous | TCC, global atrophy, periventricular white matter changes | Bulbar speech, dysphagia, neuropathy |
6 | f | 2 | 16 | 24 | 21 | c.704_705del (exon 1, p.H235fs)/c.6832_6833del (exon 37, p.S2165fs) | TCC, frontoparietal atrophy, periventricular white matter changes | Bulbar speech, neuropathy, parkinsonism |
7 | f | 20 | 20 | 37 | – | c.3036C>A (exon 16, p.Y1012*)/c.5798_5798del (exon 30, p.A1933fs) | TCC, periventricular white matter changes | Bulbar speech, neuropathy |
8 (sister of 7) | f | 24 | 22 | 44 | – | c.3036C>A (exon 16, p.Y1012*)/c.5798_5798del (exon 30, p.A1933fs) | TCC, periventricular white matter changes, frontal atrophy | Bulbar speech, neuropathy, edema, dysphagia |
9 | f | 19 | 8 | 17 | 25 | c.5623C>T (exon 30, p.Q1875*) homozygous | normal | Neuropathy |
10 | m | 2 | 14 | 20 | 14 | c.1203_1203delA (exon 6, p.D402fs) homozygous | TCC | Severe contractures, bulbar speech |
11 | m | 42 | 3 | 10 | 28 | c.255G>A (exon 1, p.W85*)/c.5381T>C (exon 30, p.L1794P) | normal | Neuropathy |
12 | m | 9 | 10 | 27 | 10 | c.2990T>A (exon 16, p.L997*)/c.4877_4878del (exon 28, p.F1626C) | TCC, periventricular white matter changes, frontal atrophy | Bulbar speech, parkinsonism |
13 | m | 3 | 23 | 16 | 16 | c.1951C>T homozygous (exon 10, p.R651*) | not available | None |
14 | m | 3 | 22 | 31 | 8 | c.190dupC (exon 1, p.Q64E)/c.704_705del (exon 4, p.H235fs) | TCC, periventricular white matter changes, frontal atrophy | Bulbar speech |
15 | f | 15 | 6 | 14 | 30 | c.2612dupG (exon 14, p.S871fs)/c.4434G>T (exon 25, p.? suspected splice variant) | TCC, periventricular white matter changes | None |
16 | f | 1 | 22 | 16 | 19 | c.2247del (exon 12, p.F750fs)/c.5623C>T (exon 30, p.Q1875*) | TCC, periventricular white matter changes, frontal atrophy | Neuropathy, bulbar speech, edema |