Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia
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Hereditary spastic paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative disorders characterized by progressive lower extremity weakness and spasticity. HSP pathology involves axonal degeneration that is most pronounced in the terminal segments of the longest descending (pyramidal) and ascending (dorsal columns) tracts. In this study, we compared spinal cord magnetic resonance imaging (MRI) in 13 HSP patients with four different types of autosomal dominant hereditary spastic paraplegia (SPG3A, SPG4, SPG6, and SPG8) with age-matched control subjects. The cross-section area of HSP subjects at cervical level C2 was 59.42±12.57 mm2 and at thoracic level T9 was 28.58±5.25 mm2. Both of these values were less than in the healthy controls (p<0.001). The degree of cord atrophy was more prominent in patients with SPG6 and SPG8 who had signs of severe cord atrophy (47.60±6.58 mm2 at C2, 21.40±2.4 mm2 at T9) than in subjects with SPG3 and SPG4 (66.0±8.94 mm2 at C2, p<0.02; 31.75±2.76 mm2 at T9, p<0.001). These observations indicate that spinal cord atrophy is a common finding in the four genetic types of HSP. Spinal cord atrophy was more severe in SPG6 and SPG8 HSP subjects than in other types of HSP we studied. This may suggest a different disease mechanism with more prominent axonal degeneration in these two types of HSP when compared with HSP due to spastin and atlastin mutations.
KeywordsMagnetic resonance imaging Hereditary spastic paraplegia Atrophy Spastin Atlastin
P.H. is supported by NIH K08NS42743. J.K.F. is supported by NIH R01NS33645, NIH R01NS38713, and the VA Merit Review Award. S.R. is supported by a grant from the University of Michigan Institute of Gerontology.
- 1.Fink JK (2002) Hereditary spastic paraplegia. In: Rimoin DL, Pyeritz RE, Connor JM, Korf BR (eds) Emery and Rimoin’s principles and practice of medical genetics, 4th edn. Harcourt, London, pp 3124–3145Google Scholar
- 9.Schwarz GA (1952) Hereditary (familial) spastic paraplegia. Arch Neurol Psychiatry 68:655–682Google Scholar
- 11.White KD, Ince PG, Lusher M et al (2000) Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation. Neurology 51:89–94Google Scholar