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. Author manuscript; available in PMC: 2015 Dec 1.
Published in final edited form as: Neuromolecular Med. 2014 Oct 4;16(4):821–844. doi: 10.1007/s12017-014-8331-9

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
a

Onset before 18 years of age;

b

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