1a*
|
m
|
30
|
31
|
-
|
33
|
Juvenile
|
Normal
|
Clearly abnormal
|
na
|
Sea blue histiocytes, foam cells
|
p.Arg978Cys/delX1-X6
|
1b*
|
f
|
27
|
28
|
Mild Polyneuropathy
|
30
|
Adult
|
9.9 mU/ml (0.0–4.6)
|
Clearly abnormal
|
na
|
na
|
p.Arg978Cys/delX1-X6
|
1c*
|
f
|
22
|
22
|
-
|
24
|
Adult
|
Normal
|
Clearly abnormal
|
na
|
na
|
p.Arg978Cys/delX1-X6
|
2a*
|
f
|
15
|
30 (− 32)
|
-
|
†32
|
Juvenile
|
8.2 mU/ml (0.0–4.6)
|
Clearly abnormal
|
Abnormal
|
Sea blue histiocytes, foam cells
|
p.Pro474Leu/p.Ile1094Thr
|
2b*
|
m
|
19
|
29
|
-
|
35
|
Juvenile
|
Normal
|
Clearly abnormal
|
na
|
Sea blue histiocytes, foam cells
|
p.Pro474Leu/p.Ile1094Thr
|
3a
|
m
|
15
|
-
|
-
|
15
|
Juvenile
|
Normal
|
Variant
|
na
|
na
|
p.Ser940Leu/p.Pro1007Ala
|
3b
|
f
|
10
|
-
|
-
|
10
|
Juvenile
|
Normal
|
na
|
na
|
na
|
p.Ser940Leu/p.Pro1007Ala
|
4a*
|
m
|
18
|
29
|
Dysphagia
|
29
|
Juvenile
|
11.3 mU/ml (0.3–3.7)
|
Clearly abnormal
|
na
|
Sea blue histiocytes, foam cells
|
p.Ile1061Thr/p.Ile1061Thr
|
4b*
|
m
|
16
|
27
|
Dysphagia, dystonia, seizures
|
27
|
Juvenile
|
4.4 mU/ml (0.3–3.7)
|
Clearly abnormal
|
na
|
Sea blue histiocytes, foam cells
|
p.Ile1061Thr/p.Ile1061Thr
|
5
|
m
|
2
|
3
|
VSGP
|
5
|
Late-infantile
|
24.5 mU/ml (0.0–1.03)
|
Variant
|
na
|
Sea blue histiocytes, foam cells
|
p.Ile1067Thr/p.Asp948Asn
|
6
|
m
|
7.5
|
-
|
-
|
†7.5
|
Late-infantile
|
na
|
Clearly abnormal
|
na
|
Foam cells
|
c.1554-1009G > A (intron 9)/p.Tyr1081*
|
7
|
f
|
50
|
50
|
Dysphagia
|
51
|
Adult
|
Normal
|
Clearly abnormal
|
na
|
Sea blue histiocytes, foam cells
|
p.Asp898Asn/ p.Pro1245Cysfs*12
|
8
|
f
|
23
|
24
|
-
|
25
|
Adult
|
Normal
|
Clearly abnormal
|
na
|
na
|
na
|
9
|
f
|
15
|
-
|
-
|
†25
|
Juvenile
|
na
|
Clearly abnormal
|
Abnormal
|
na
|
na
|