Skip to main content

Table 1 Age, age at disease onset, age at the initiation of folinic acid treatment, CSF folate values, clinical features, molecular studies (% deletion and size) and histopathology on muscle biopsy

From: Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

 

Case 1 a

Case 2 a

Case 3 a

Case 4 a

Case 5

Case 6 a

Case 7

Case 8 a

Age (y)

12

16

23

20

42

14

29

16

Onset age (y)

0.3

10

10

6

9

9

8

7

Age of folinic acid treatment

8.5

11

17

14

-

13

-

8

CSF Folate (nmol/L)

7

5.6

2

6

24

4

1

8

Clinical features and age

        

NPMDS Score b

31

7

26

29

100 (at 33y)**

17

114**

20

Ophthalmoplegia and retinopathy

7 y

10 y

10 y

7 y

18 y

9 y/12 y

10 y

9 y

Cerebellar ataxia

7 y

 

15 y

7 y

27 y

9 y

8 y

7 y

Myopathy

7 y

10 y

15 y

7 y

12 y

9 y

10 y

8 y

Cardiac conduction block

9 y

11 y

14 y

9 y

30 y

14 y

12 y

 

Diabetes mellitus

  

12 y

12 y

  

15 y

 

Hearing loss

+

12 y

 

14 y

21 y

 

11 y

9 y

Others

Renal Fanconi 2 y Exocrine pancreatic insufficiency 3 y Suprarenal insufficiency 7 y

  

Pacemaker

Myoclonic jerks Short stature 9 y

Short stature Renal insufficiency

Short stature Pacemaker at 15 y

Myoclonic jerks

Partial seizures

Short stature

Renal insufficiency

Suprarenal insufficiency

Molecular studies: % deletion (size)

75%

18%

40%

71%

77%

80%

62%

73%

6900

7900

7100

5100

2434

5800

4977

4121

Histopathology Muscle biopsy

-

Normal

Lipids in fibers

Raged-red fibers (RRF), COX negative

RRF

-

RRF

RRF partial COX deficient-fibers

  1. Not performed (−). aCase that agreed to participate; bAt baseline (before folinic acid treatment). **Score assessed in adult patients using NMDAS.