Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment

MeSH terms

• Adult
• Age of Onset
• Amino Acid Sequence
• Base Sequence
• Child
• DNA Mutational Analysis
• Dopamine Agents / therapeutic use*
• Exome
• Female
• Humans
• Levodopa / therapeutic use*
• Male
• Molecular Sequence Data
• Muscle Spasticity / drug therapy
• Muscle Spasticity / genetics
• Mutation, Missense
• Paraplegia / complications
• Paraplegia / drug therapy
• Paraplegia / genetics
• Pedigree
• Proteins / genetics*
• Spastic Paraplegia, Hereditary / complications
• Spastic Paraplegia, Hereditary / drug therapy
• Spastic Paraplegia, Hereditary / genetics