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Article

Recurrent null mutation in SPG20 leads to Troyer syndrome.

Molecular and cellular probes - 1 Oct 2015

Tawamie Hasan, Wohlleber Eva, Uebe Steffen, Schmäl Christine, Nöthen Markus M, Abou Jamra Rami

Abstract excerpt

Troyer syndrome is an autosomal recessive form of complex hereditary spastic paraplegia. To date, the disorder has only been described in the Amish and in kindred from Oman. In Amish, all affected individuals have a homozygous one nucleotide deletion; c.1110delA. In the Omani kindred, all affected have a homozygous two nucleotides deletion; c.364_365delTA (p.Met122ValfsTer2). Here we report the results of...

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PMID: 26003402
DOI: 10.1016/j.mcp.2015.05.006

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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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