Journal of neuroimaging : official journal of the American Society of Neuroimaging · 2008
Forceps minor region signal abnormality "ears of the lynx": an early MRI finding in spastic paraparesis with thin corpus callosum and mutations in the spatacsin gene (SPG11) on chromosome 15.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Riverol M, Samaranch L, Pascual B, Pastor P, Irigoyen J, Pastor M A, de Castro P, Masdeu J C
Аннотация
BACKGROUND AND PURPOSE: A thin corpus callosum on magnetic resonance imaging (MRI) characterizes a type of autosomal recessive disorder with progressive spastic paraparesis and cognitive impairment. Known as Hereditary Spastic Paraparesis with Thin Corpus Callosum (HSP-TCC), it has been associated with mutations of the SPG11 gene. No other specific MRI findings have been reported.
METHODS: We studied with MRI four patients from three families with HSP-TCC who had identified causal mutations in the SPG11 gene.
RESULTS: In all individuals studied the region of the forceps minor of the corpus callosum, corresponding to the genu fibers, appeared bright on T2-weighted and dark on T1-weighted images. On axial sections, the frontal horn region bore a remarkable resemblance to the ears of a lynx, with the areas of abnormal signal reminiscent of the tufts of hair crowning the tips of the ears of this animal. Less specific findings included a box-shape appearance of the calloso-caudate angle and diffusely increased signal in the hemispheric white matter.
CONCLUSION: Abnormal MRI signal in the region of the forceps minor of the corpus callosum is a characteristic early imaging finding of HSP-TCC with SPG11 mutations.
METHODS: We studied with MRI four patients from three families with HSP-TCC who had identified causal mutations in the SPG11 gene.
RESULTS: In all individuals studied the region of the forceps minor of the corpus callosum, corresponding to the genu fibers, appeared bright on T2-weighted and dark on T1-weighted images. On axial sections, the frontal horn region bore a remarkable resemblance to the ears of a lynx, with the areas of abnormal signal reminiscent of the tufts of hair crowning the tips of the ears of this animal. Less specific findings included a box-shape appearance of the calloso-caudate angle and diffusely increased signal in the hemispheric white matter.
CONCLUSION: Abnormal MRI signal in the region of the forceps minor of the corpus callosum is a characteristic early imaging finding of HSP-TCC with SPG11 mutations.