Spg11 presenting with tremor

5Citations
Citations of this article
17Readers
Mendeley users who have this article in their library.

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.

Cite

CITATION STYLE

APA

Schneider, S. A., Mummery, C. J., Mehrabian, M., Houlden, H., & Bain, P. G. (2012). Spg11 presenting with tremor. Tremor and Other Hyperkinetic Movements, 2. https://doi.org/10.5334/TOHM.95

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free