From: Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia
Pt Gender (age at last evaluation) | Genotype | Onset | Diagnosis | Previous coma | Previous lethargy | Seizures/ myoclonus | Intellectual disabilty | Adaptive functions | Reference | |
---|---|---|---|---|---|---|---|---|---|---|
Daily activity | Employment/ scholarization | |||||||||
1 male (53 years) | 79G > A/79G > A G27R/G27R | 2 yrs | 41 yrs | + | + | – | borderline | 1 | + (1) | |
2 male (44 years) | 535C > T/535C > T R179X/R179X | 12 yrs | 26 yrs | – | + | + | mild | 2 | none (2) | |
3 male (35 years) | 861insG/861insG S90X/S90X | 14 d | 2 yrs | + | + | + | severe | 3 | none (3) | |
4 female (34 years) | 79G > A/79G > A G27R/G27R | 4 d | 3 mo | + | – | + | borderline | 1 | + (1) | |
5 female (34 years) | 824G > A/824G > A R275Q/R275Q | 3 yrs | 7 yrs | – | + | – | moderate | 2 | none (3) | |
6 male (29 years) | IVS5 + 1G > A/IVS5 + 1G/A (exon skipping) | 18 yrs | 21 yrs | + | + | + | borderline | 3 | none (3) | |
7a female (12 years) | 79G > A/823C > G G27R/R275G | 1 yr | 8 yrs | – | – | – | borderline | 1 | + (2) | [3] |
8a female (8 years) | 79G > A/823C > G G27R/R275G | 1 yr | 4 yrs (prospective) | – | – | – | borderline | 1 | + (2) | [3] |
9 female (8 years) | 68G > A/86C > G C23Y/P29R | 1 yr | 5 yrs | – | – | – | no (selective skills impairment) | 1 | + (2) |  |