spastic paraplegia type-11

Introduction

See hereditary spastic paraplegia

Genetics

• autosomal dominant
• associated with mutations in spatacsin gene (SPG11)

Laboratory

• SPG11 gene deletion, duplication & mutation analysis

More general terms

• hereditary spastic paraplegia (familial spastic paralysis)

Database

• OMIM: https://mirror.omim.org/entry/604360