title: Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment.
authors.forename: Conceição
authors.initials: C
authors.lastname: Bettencourt
authors.forename: Huw R
authors.initials: HR
authors.lastname: Morris
authors.forename: Andrew B
authors.initials: AB
authors.lastname: Singleton
authors.forename: John
authors.initials: J
authors.lastname: Hardy
authors.forename: Henry
authors.initials: H
authors.lastname: Houlden
mesh_terms: D000328:Adult; D017668:Age of Onset; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D015259:Dopamine Agents / Q000627:therapeutic use*; D059472:Exome; D005260:Female; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D008297:Male; D008969:Molecular Sequence Data; D009128:Muscle Spasticity / Q000188:drug therapy / Q000235:genetics; D020125:Mutation, Missense; D010264:Paraplegia / Q000150:complications / Q000188:drug therapy / Q000235:genetics; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D015419:Spastic Paraplegia, Hereditary / Q000150:complications / Q000188:drug therapy / Q000235:genetics
chemical_list: D015259:Dopamine Agents; D011506:Proteins; C517003:WASHC5 protein, human; D007980:Levodopa