45. Clinical and electrophysiological non-SPG4 spectrum of HSP

• Published in: Clinical neurophysiology Vol. 126; no. 1; p. e11
• Main Authors: Polo, A, Ferigo, L, Marucco, A, Sorarù, G, Santorelli, F.M, Bonometti, M.A
• Format: Journal Article
• Language: English
• Published: Elsevier Ireland Ltd 01.01.2015
• Subjects: Neurology
• ISSN: 1388-2457; 1872-8952
• DOI: 10.1016/j.clinph.2014.10.064

SPG clinical spectrum of “pure” and “complicated” HSP is wide, including visual pathways and retina involvement, motor neuron and extrapyramidal syndromes. Two females (sporadic cases) and one male patient have been studied. (1) Disease onset in early childhood: mild mental retardation with learning disability, skeletal deformity and speech impairment have been related to complicated delivery with cyanosis and hypoxia with need to ICU support. The occurrence of progressive spastic paraparesis addressed to diagnostic evaluation by MRI and neurophysiological investigation. Abnormalities of MEPs, mild polyneuropathy support the hypothesis of AR-HSP. DNA sample analysis confirmed mutations in SPG11 gene. Gait was still possible. (2) Disease onset in early childhood: progressive muscle weakness and distal atrophy; at 24 years old age, she was wheelchair-bound. Neurophysiological assessment pointed out a peripheral motor neuron damage and abnormalities of MEPs; delayed visual evoked potentials with a normal elecroretinogram (both to luminance and contrast variations) was suggestive for the occurrence of optic neuropathy without retina involvement. Direct sequencing of SPG11 identified 2 heterozygous mutations. (3) Disease onset in adulthood: progressive paraparesis and pain in the lower limbs with pyramidal signs. There was a family history of paraparesis. Spine MRI was normal. Neurophysiological assessment showed normal peripheral motor conduction, normal VEPs and delayed MEPs. Direct sequencing of SPG 7 identified heterozygous mutation missense and splicing. Diverse clinical features have been reported with SPG mutations, including diversity in presentation and clinical course: comprehensive electrophysiological testing disclosed a more widespread affection of nervous system and could reflect different underlying pathomechanisms of HSP.