TY - JOUR
T1 - Forceps minor region signal abnormality "ears of the lynx"
T2 - An early MRI finding in spastic paraparesis with thin corpus callosum and mutations in the spatacsin gene (SPG11) on chromosome 15
AU - Riverol, M.
AU - Samaranch, L.
AU - Pascual, B.
AU - Pastor, P.
AU - Irigoyen, J.
AU - Pastor, M. A.
AU - De Castro, P.
AU - Masdeu, J. C.
PY - 2009/1
Y1 - 2009/1
N2 - 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.
AB - 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.
KW - Forceps minor of the corpus callosum
KW - Hereditary spastic paraparesis with thin corpus callosum
KW - Magnetic resonance imaging (MRI)
KW - Spatacsin
KW - SPG11
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U2 - 10.1111/j.1552-6569.2008.00327.x
DO - 10.1111/j.1552-6569.2008.00327.x
M3 - Article
C2 - 19040626
AN - SCOPUS:58149354675
SN - 1051-2284
VL - 19
SP - 52
EP - 60
JO - Journal of Neuroimaging
JF - Journal of Neuroimaging
IS - 1
ER -