SPG11 Presenting with Tremor

Susanne A Schneider, Catherine J Mummery, Mohadeseh Mehrabian, Henry Houlden, Peter G Bain, Molecular Neurogenetics, United Kingdom, Charing Cross, Hospital Campus


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. © 2012 Schneider et al.
TitelTremor and Other Hyperkinetic Movements
ISBN (Print)2160-8288
PublikationsstatusVeröffentlicht - 2012


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