Skip to main content

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