Table 5.
Clinical and neuroimaging findings in hereditary spastic paraplegias (HSP) with pediatric onseta
| HSP form | HSP type | Inheritance | Gene | Childhood onset | Disease characteristicsb | Neuroimaging findings (brain) |
|---|---|---|---|---|---|---|
| Pure | SPG3A | aut. dom | ATL1 | +++ | None | Normal |
| Pure | SPG4 | aut. dom | SPAST | ++ | None | Leukoencephalopathy, thin corpus callosum |
| Pure | SPG6 | aut. dom | NIPA1 | + | None | Normal |
| Pure | SPG10 | aut. dom | KIF5A | +++ | Neuropathy | Normal |
| Pure | SPG12 | aut. dom | RTN2 | +++ | None | Normal |
| Pure | SPG31 | aut. dom | REEP1 | ++ | None | Normal |
| Complicated | SPG1 | X-linked | L1CAM | ++ | Intellectual disability, adducted thumb | Thin corpus callosum |
| Complicated | SPG2 | X-linked | PLP1 | +++ | Intellectual disability, epilepsy | Normal |
| Complicated | SPG7 | aut. rec. | SPG7 | + | Optic atrophy, neuropathy, cerebellar ataxia | Cerebellar atrophy |
| Complicated | SPG11 | aut. rec. | KIAA1840 | +++ | Intellectual disability, neuropathy | Leukoencephalopathy, thin corpus callosum |
| Complicated | SPG15 | aut. rec. | ZFYVE26 | +++ | Intellectual disability, retinopathy, cerebellar ataxia | Leukoencephalopathy, thin corpus callosum |
| Complicated | SPG17 | aut. rec. | BSCL2 | + | Neuropathy | Normal |
Onset before 18 years of age;
other than the classic HSP symptoms including spastic paraparesis, atrophy of the distal lower extremities and neurogenic bladder dysfunction; aut. dom., autosomal dominant; +, occasional; ++, common; +++, characteristic