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SPG11 Presenting with Tremor.

Schneider, SA; Mummery, CJ; Mehrabian, M; Houlden, H; Bain, PG; (2012) SPG11 Presenting with Tremor. Tremor Other Hyperkinet Mov (N Y) , 2 10.7916/D82B8WRR.

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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.

Type: Article
Title: SPG11 Presenting with Tremor.
Location: United States
DOI: 10.7916/D82B8WRR
Keywords: SPG11, Tremor, hereditary spastic paraplegia, spatacsin
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: http://discovery.ucl.ac.uk/id/eprint/1399011
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