title: Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1.
abstract: BACKGROUND
  Hereditary spastic paraplegia type 6 (SPG6) is caused by mutations in the NIPA1 gene, this is a rare cause of HSP, until now, all the affected individuals reported displayed "pure" spastic paraplegia.
  
  
  OBJECTIVE
  To analyze the genotype/phenotype correlation of mutations so far described in NIPA1.
  
  
  METHODS
  Eighty-six Chinese Han HSP patients were investigated for SPG6 mutations by direct sequencing of the NIPA1 gene.
  
  
  RESULTS
  One heterozygous missense mutation c.316G>C/p.G106R was identified in a complicated form of ADHSP family with peripheral nerves disease, and SPG6 mutation in our sample accounted for 3.6% (1/28) of ADHSP families and 1.1% (1/86) of non-ARHSP patients who were negative for SPG4, SPG3A and SPG31 mutations.
  
  
  CONCLUSIONS
  We report the first complicated case of SPG6 in the world by the presence of peripheral neuropathy, which extends the phenotype initially described.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Juan
authors.initials: J
authors.lastname: Du
authors.forename: Ya-Cen
authors.initials: YC
authors.lastname: Hu
authors.forename: Bei-Sha
authors.initials: BS
authors.lastname: Tang
authors.forename: Chong
authors.initials: C
authors.lastname: Chen
authors.forename: Ying-Ying
authors.initials: YY
authors.lastname: Luo
authors.forename: Zi-Xiong
authors.initials: ZX
authors.lastname: Zhan
authors.forename: Guo-Hua
authors.initials: GH
authors.lastname: Zhao
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Lu
authors.initials: L
authors.lastname: Shen
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D044466:Asian People; D002648:Child; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology; D005091:Exons / Q000502:physiology; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D009046:Motor Neurons / Q000502:physiology; D009154:Mutation / Q000502:physiology; D009431:Neural Conduction / Q000502:physiology; D010375:Pedigree; D010641:Phenotype; D020133:Reverse Transcriptase Polymerase Chain Reaction; D015419:Spastic Paraplegia, Hereditary / Q000145:classification / Q000235:genetics* / Q000473:pathology*; D055815:Young Adult
chemical_list: D008565:Membrane Proteins; C478824:NIPA1 protein, human