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Article

Three cases of Troyer syndrome in two families of Filipino descent.

American journal of medical genetics. Part A - 1 Jul 2016

Butler Shauna, Helbig Katherine L, Alcaraz Wendy, Seaver Laurie H, Hsieh David T, Rohena Luis

Abstract excerpt

Troyer syndrome is a complex hereditary spastic paraplegia (HSP) due to a mutation in SPG20 first reported in the Old Amish population. A genetic mutation in SPG20 is responsible for a loss of function of the protein spartin in this disease. Since its initial report, this syndrome has also been reported in Turkish and Omani families. Here we report the case of three patients of Filipino descent with Troyer...

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PMID: 27112432
DOI: 10.1002/ajmg.a.37658

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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