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| Features of MRI in hereditary spastic paraplegia due to spastin mutation and REEP1 mutation |
| YANG Yong-fang1, GAO Pei-hong2, CHE Feng-yuan2 |
| 1. Taishan Medical College, Tai’an Shandong 271000, China;2. Linyi People’s Hospital, Linyi Shandong 276000, China |
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Abstract Objective: To investigate features of the magnetic resonance imaging in two pedigrees with hereditary spastic paraplegia type 4 and type 31. Methods: Eight HSP patients in two families were determined as SPG4 or SPG31 by genetic linkage analysis. MRI of brain and the whole spinal cord were performed in these 8 patients and 16 age- and gender-matched control subjects utilizing a 1.5T magnet. Cross-sectional areas of the spinal cord at the levels of C2, C7, T4, T9 were measured and data was statistically analyzed using the student’s t test, an association between the spinal cord size and severity of the disease was analyzed using the spearman rank correlation test. Results: All patients had grossly normal MRI of the brain. The cross-sectional areas of SPG31 subjects at the levels of C2, C7, T4, T9 were (50.13±3.43)mm2, (40.45±2.00)mm2, (22.03±4.55)mm2, (26.10±4.55)mm2 respectively. All of these values were less than those in the healthy controls(t=6.331, 6.889, 4.647, 3.345 respectively, P<0.007）. While analysis of the cross-sectional areas in SPG4 subjects had no significant abnormalities. There was no association between the degree of spinal cord atrophy and severity and duration of the disease in these two genetic subtypes of HSP. Conclusions: The degree of spinal cord atrophy varies among different genetic types of HSP. Cervical and thoracic MRI of SPG31 subjects revealed atrophies of the spinal cord and enlarged subarachnoid cavity.
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Received: 30 August 2010
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Corresponding Authors:
CHE Feng-yuan
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2011, Vol. 22 
