"Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
Pascual B (1), de Bot ST (2), Daniels MR (3), França MC Jr (4), Toro C (5), Riverol M (6), Hedera P (7), Bassi MT (8), Bresolin N (9), van de Warrenburg BP (10), Kremer B (11), Nicolai J (12), Charles P (13), Xu J (14), Singh S (15), Patronas NJ (5), Fung SH (15), Gregory MD (5), Masdeu JC (3).
(1) From the Departments of Neurology (B.P., M.R.D., J.C.M.)
(2) Department of Neurology (S.T.d.B.), Leiden University Medical Centre, Leiden, the Netherlands.
(3) From the Departments of Neurology (B.P., M.R.D., J.C.M.).
(4) Department of Neurology (M.C.F.), University of Campinas, Campinas, Brazil.
(5) National Institutes of Health Intramural Research Program (C.T., N.J.P., M.D.G.), Bethesda, Maryland.
(6) Department of Neurology (M.R.), Clínica Universidad de Navarra, Pamplona, Spain.
(7) Department of Neurology (P.H.), Vanderbilt University Medical Center, Nashville, Tennessee.
(8) Laboratory of Molecular Biology (M.T.B.), Scientific Institute Istituto di Ricovero e Cura a Carattere Scientifico E. Medea, Bosisio Parini, Lecco, Italy.
(9) Department of Neuroscience and Mental Health (N.B.), University Hospital Policlinico Ca'Granda, University of Milan, Milan, Italy.
(10) Department of Neurology (B.P.v.d.W.), Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
(11) Department of Neurology (B.K.), University Medical Center Groningen, Groningen, the Netherlands.
(12) Department of Neurology (J.N.), Maastricht University Medical Centre, Maastricht, the Netherlands.
(13) Department of Genetics (P.C.), Hôpital Pitié-Salpêtrière, Paris, France.
(14) Biostatistics (J.X.).
(15) Radiology (S.S., S.H.F.), Houston Methodist Research Institute, Houston, Texas.
Magazine: AJNR American Journal Neuroradiology
Date: Jan 3, 2019Neurology [SP]
BACKGROUND AND PURPOSE:
The "ears of the lynx" MR imaging sign has been described in case reports of hereditary spastic paraplegia with a thin corpus callosum, mostly associated with mutations in the spatacsin vesicle trafficking associated gene, causing Spastic Paraplegia type 11 (SPG11). This sign corresponds to long T1 and T2 values in the forceps minor of the corpus callosum, which appears hyperintense on FLAIR and hypointense on T1-weighted images. Our purpose was to determine the sensitivity and specificity of the ears of the lynx MR imaging sign for genetic cases compared with common potential mimics.
MATERIALS AND METHODS:
Four independent raters, blinded to the diagnosis, determined whether the ears of the lynx sign was present in each of a set of 204 single anonymized FLAIR and T1-weighted MR images from 34 patients with causal mutations associated with SPG11 or Spastic Paraplegia type 15 (SPG15). 34 healthy controls, and 34 patients with multiple sclerosis.
The interrater reliability for FLAIR images was substantial (Cohen κ, 0.66-0.77). For these images, the sensitivity of the ears of the lynx sign across raters ranged from 78.8 to 97.0 and the specificity ranged from 90.9 to 100. The accuracy of the sign, measured by area under the receiver operating characteristic curve, ranged from very good (87.1) to excellent (93.9).
The ears of the lynx sign on FLAIR MR imaging is highly specific for the most common genetic subtypes of hereditary spastic paraplegia with a thin corpus callosum. When this sign is present, there is a high likelihood of a genetic mutation, particularly associated with SPG11 or SPG15, even in the absence of a family history.
CITATION AJNR Am J Neuroradiol. 2019 Jan 3. doi: 10.3174/ajnr.A5935.
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