| Main clinical features
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'pure' hereditary spastic paraplegia with a symptomatic spastic-gait abnormality, in addition to lower-limb reflexia
asymptomatic patient was an obligate gene carrier who had bilateral lower-limb hyperreflexia, bilateral extensor-plantar responses, and unilateral sustained ankle clonus, in any cases complicated by distal muscle atrophy
peripheral neuropathy, severe upper limb amyotrophy (Silver syndrome-like), mental impairment, parkinsonism, deafness and/or retinitis pigmentosa as variably associated features PMID:18853458
spastic paraplegia with mostly subclinical peripheral neuropathy
adult onset spastic paraparesis, diffuse paresthesias, and axonal peripheral neuropathy PMID:21107874
adult onset spastic paraplegia, sensory spinal cord-like syndrome, dysautonomia, and severe axonal polyneuropathy, spinal cord atrophy and symmetric cerebral demyelination, and loss of vesicles at the pre-synaptic membrane on skin biopsy PMID:22788249 |