Mast Syndrome Outside the Amish Community: SPG21 in Europe

Mast syndrome is a rare disorder belonging to the group of hereditary spastic paraplegias (HSPs). It is caused by bi-allelic mutations in the gene, and is originally described in Old Order Amish. Outside this population, only one Japanese and one Italian family have been reported. Herein, we describ...

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Bibliographic Details
Published in:Frontiers in neurology Vol. 12; p. 799953
Main Authors: Amprosi, Matthias, Indelicato, Elisabetta, Nachbauer, Wolfgang, Hussl, Anna, Stendel, Claudia, Eigentler, Andreas, Gallenmüller, Constanze, Boesch, Sylvia, Klopstock, Thomas
Format: Journal Article
Language:English
Published: Switzerland Frontiers Media S.A 17.01.2022
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ISSN:1664-2295, 1664-2295
Online Access:Get full text
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