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J Clin Neuromuscul Dis. 2009 Sep;11(1):57-9. doi: 10.1097/CND.0b013e3181ae3c06.

Novel SPG3A and SPG4 mutations in two patients with Silver syndrome.

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  • 1Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.


Hereditary spastic paraplegia encompasses a group of disorders that are characterized by progressive lower extremity weakness and spasticity. We describe two patients with Silver phenotype including one with a novel SPG4 (Spastin) mutation and a second with a known SPG 4 mutation (previously unassociated with this phenotype) and a concomitant previously unreported mutation in SPG3A (Atlastin). These cases suggest that Silver syndrome may be associated with a wider variety of genotypes than previously described.

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