Article
PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia.
Clinical genetics - 1 Nov 2017
Ozes B, Karagoz N, Schüle R, Rebelo A, Sobrido M-J, Harmuth F, Synofzik M, Pascual S I P, Colak M, Ciftci-Kavaklioglu B, Kara B, Ordóñez-Ugalde A, Quintáns B, Gonzalez M A, Soysal A, Zuchner S, Battaloglu E
Abstract excerpt
PLA2G6-associated neurodegeneration (PLAN) and hereditary spastic paraplegia (HSP) are 2 groups of heterogeneous neurodegenerative diseases. In this study, we report PLA2G6 gene mutations in 3 families from Turkey, Morocco, and Romania. Two affected Turkish siblings presenting HSP adds the disease to PLAN phenotypes. They were homozygous for the PLA2G6 missense c.2239C>T, p.Arg747Trp variant and the ages of onset...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.