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Table 1 Main clinical and genetic features in nine patients with HHH syndrome

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) [3, 12]
2
male (44 years)
535C > T/535C > T
R179X/R179X
12 yrs 26 yrs + + mild 2 none (2) [3, 5]
3
male (35 years)
861insG/861insG
S90X/S90X
14 d 2 yrs + + + severe 3 none (3) [3, 5, 14]
4
female (34 years)
79G > A/79G > A
G27R/G27R
4 d 3 mo + + borderline 1 + (1) [3, 5, 13, 14]
5
female (34 years)
824G > A/824G > A
R275Q/R275Q
3 yrs 7 yrs + moderate 2 none (3) [3, 5, 15]
6
male (29 years)
IVS5 + 1G > A/IVS5 + 1G/A (exon skipping) 18 yrs 21 yrs + + + borderline 3 none (3) [3, 5]
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)  
  1. Legend: aSiblings. For adaptive functions: 1 = autonomous, 2 = assisted; 3 = dependent. yrs years, mo months, d days, + present, – absent