Concepedia

High frequency of partial <i>SPAST</i> deletions in autosomal dominant hereditary spastic paraplegia

Christian Beetz, Anders O.H. Nygren, Jörg Schickel, Michaela Auer‐Grumbach, Kelly Burk, G. Heide, Jan Kassubek, Sven Klimpe, Thomas Klopstock, Friedmar R. Kreuz,

Neurology · 2006 · 138 citations · 22 references

DOI

Abstract

Partial SPAST deletions, but not SPAST amplifications and SPG3A copy number aberrations, represent an underestimated cause of autosomal dominant hereditary spastic paraplegia. Partial SPAST deletions are likely to act via haploinsufficiency.

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