title: Novel deletion of SPAST in a Chinese family with hereditary spastic paraplegia.
abstract: BACKGROUND
  Hereditary spastic paraplegia (HSP) belongs to a large, heterogeneous group of progressive neurodegenerative diseases characterised by progressive lower extremity weakness and spasticity, which is caused by developmental failure or degeneration of motor axons in the corticospinal tract. Classical genetic studies have identified at least 46 genetic loci responsible for HSP.
  
  
  METHODS
  A genetic study was conducted on a four-generation Chinese family with autosomal dominant HSP. The SPAST gene was investigated using linkage analysis and direct sequencing. Findings were compared with unaffected family members and 50 normal, unaffected individuals who were matched for geographical ancestry.
  
  
  RESULTS
  We identified a novel 14-bp heterozygous deletion that induced a frameshift mutation in exon 15 of SPAST (SPG4). This mutation is predicted to have functional impact and found to cosegregate with the disease phenotype.
  
  
  CONCLUSIONS
  Our results have expanded the mutation spectrum of the SPAST gene. These findings could help clinicians provide prenatal diagnosis of affected foetuses in families with a known history of such neurodegenerative diseases.
authors.affiliation: Key Laboratory for Experimental Teratology of the Ministry of Education and Department of Medical Genetics, Shandong University School of Medicine, Jinan, PR China.
authors.forename: Yapei
authors.initials: Y
authors.lastname: Feng
authors.forename: Xin
authors.initials: X
authors.lastname: Ke
authors.forename: Meng
authors.initials: M
authors.lastname: Zhai
authors.forename: Qian
authors.initials: Q
authors.lastname: Xin
authors.forename: Yaoqin
authors.initials: Y
authors.lastname: Gong
authors.forename: Qiji
authors.initials: Q
authors.lastname: Liu
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002681:China; D005091:Exons; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation; D017353:Gene Deletion; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D017422:Sequence Analysis, DNA; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis* / Q000235:genetics*; D000074181:Spastin; D055815:Young Adult
chemical_list: D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human