Franca Wagner1, David S Titelbaum2, Renate Engisch3, Emily K Coskun4, Jeff L Waugh5. 1. Department of Diagnostic and Interventional Neuroradiology, University Hospital of Bern, University of Bern, Bern, Switzerland. franca.wagner@insel.ch. 2. Shields Healthcare, Brockton, MA, USA. 3. Department of Radiology, Luzerner Kantonsspital, Lucerne, Switzerland. 4. Harvard Vanguard Medical Associates, Boston, MA, USA. 5. Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
Abstract
PURPOSE: Hereditary spastic paraplegia (HSP) and hereditary spastic ataxia (HSA) are a heterogeneous group of genetic disorders characterized by progressive lower limb spasticity resulting from pyramidal tract dysfunction. By identifying critical imaging findings within the clinical context of spasticity, radiologists are uniquely positioned to recommend specific genetic testing, and thus facilitate diagnosis. METHODS: We present two examples of HSP and HSA that had gone clinically unrecognized for years, and in which magnetic resonance imaging played a critical role in the diagnosis. RESULTS: Radiologists' awareness of HSP and HSA, combined with a critical review of the clinical history and characteristic imaging findings led to specific genetic testing and a definitive diagnosis. CONCLUSION: Awareness of HSP and HSA among radiologists will expedite more accurate diagnosis, explanation of patient symptoms, recommendation for syndrome-specific treatment, and family planning considerations.
PURPOSE:Hereditary spastic paraplegia (HSP) and hereditary spastic ataxia (HSA) are a heterogeneous group of genetic disorders characterized by progressive lower limb spasticity resulting from pyramidal tract dysfunction. By identifying critical imaging findings within the clinical context of spasticity, radiologists are uniquely positioned to recommend specific genetic testing, and thus facilitate diagnosis. METHODS: We present two examples of HSP and HSA that had gone clinically unrecognized for years, and in which magnetic resonance imaging played a critical role in the diagnosis. RESULTS: Radiologists' awareness of HSP and HSA, combined with a critical review of the clinical history and characteristic imaging findings led to specific genetic testing and a definitive diagnosis. CONCLUSION: Awareness of HSP and HSA among radiologists will expedite more accurate diagnosis, explanation of patient symptoms, recommendation for syndrome-specific treatment, and family planning considerations.
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