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Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis
- Vinci, Mirella, Fichera, Marco, Musumeci, Sebastiano Antonino, Cali, Francesco, Vitello, Girolamo Aurelio
- Journal of genetics 2018 v.97 no.5 pp. 1469-1472
- genes, mutation, patients
- Hereditary spastic paraplegias are clinically and genetically heterogeneous degenerative disorders, and pathological variants in the autosomal recessive ZFYVE26 gene are considered as very rare causes. We describe a novel mutation in ZFYVE26 gene found in a patient with autosomal recessive spastic paraplegias. The use of a ‘target-gene’ approach allowed us to expand the clinical spectrum associated with hereditary spastic paraplegias.