| Family | # Affected relatives | DNA change | Protein change | Exon/Intron | Clinical features | Remarks |
|
1
| 2 |
c.26G>C
| p.Trp9Ser | Exon 1 |
Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
| Patient 1: > 6 yrs, patient 2 died at 2 weeks of age |
|
2
| 3 |
c.1267+4A>T
| p.Leu376_Gln423del | Intron 10 |
Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
| Index case died before the age of 1 yr. |
|
3
| 2 |
c.361G>A
| p.Gly121Ser | Exon 4 |
Adducted thumbs, Aphasia, Hydrocephalus, Mental retardation, Spastic paraplegia
| Both > 1 yr |
|
4
| 6 |
c.925G>A
| p.Glu309Lys | Exon 8 |
Adducted thumbs, Aphasia, Hydrocephalus, Mental retardation, Spastic paraplegia
| |
|
5
| 6 |
c.3531-12G>A
| p.? | Intron 26 |
Adducted thumbs, Aphasia, Mental retardation, Spastic paraplegia
| All patients: > 1 yr |
|
6
| 2 |
c.1756C>T
| p.Gln586X | Exon 14 |
Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
| Died before the age of 1 yr: 1/2 |
|
7
| 2 |
c.2302G>T
| p.Val768Phe | Exon 18 |
Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
| Died before the age of 1 yr: 1/2 |
|
8
| 6 |
c.2822C>T
| p.Pro941Leu | Exon 21 |
Adducted thumbs, Aphasia, Hydrocephalus, Mental retardation, Spastic paraplegia
| Died before the age of 1 yr: 0/3 |
|
9
| 4 |
c.3209A>G
| p.Tyr1070Cys | Exon 24 |
Hydrocephalus, Mental retardation, Spastic paraplegia
| Died before the age of 1 yr: 1/4 |