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Abstract

Background: Hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurological diseases, which typically present with progressive lower extremity weakness and spasticity causing progressive walking difficulties. Complicating neurological or extraneurological features may be present.

Case Report: We describe a 19-year-old male who was referred because of an action tremor of the hands; he later developed walking difficulties. Callosal atrophy was present on his cerebral magnetic resonance imaging scan, prompting genetic testing for SPG11, which revealed homozygous mutations.

Discussion: The clinical features, differential diagnosis and management of SPG11, the most common form of autosomal recessive complicated HSP with a thin corpus callosum are discussed.

DOI: https://doi.org/10.5334/tohm.95 | Journal eISSN: 2160-8288
Language: English
Submitted on: May 4, 2012
Accepted on: May 26, 2012
Published on: Sep 14, 2012
Published by: Columbia University Libraries/Information Services
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2012 Susanne A. Schneider, Catherine J. Mummery, Mohadeseh Mehrabian, Henry Houlden, Peter G. Bain, published by Columbia University Libraries/Information Services
This work is licensed under the Creative Commons License.