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Article

Novel SPG20 mutation in an extended family with Troyer syndrome.

Metabolic brain disease - 1 Dec 2017

Bizzari S, Hamzeh A R, Nair P, Mohamed M, Saif F, Aithala G, Al-Ali M T, Bastaki F

Abstract excerpt

Troyer Syndrome (TRS) is a rare autosomal recessive complicated spastic paraplegia disorder characterized by various neurological and musculoskeletal manifestations. Pathogenicity stems from mutations in SPG20 which encodes Spartin, a multifunctional protein that is thought to be essential for neuron viability. Here we report on the clinical and molecular characterization of TRS in five patients from an extended...

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PMID: 28875386
DOI: 10.1007/s11011-017-0104-3

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