title: Mutation in the HTRA1 gene in a patient with degenerated spine as a component of CARASIL syndrome.
abstract: OBJECTIVE
  To show the mutation in HTRA1 gene in a patient suffering from CARASIL syndrome with degenerated spine as a component of the disease.
  
  
  METHODS
  We identified a family that one of the members had CARASIL syndrome in eastern Turkey and collected venous blood from available persons. The HTRA1 gene sequenced in all family members.
  
  
  RESULTS
  C to T transition at position 1108 (c.1108 C > T) in exon 6, causing stop codon formation (R370X) was seen in the HTRA1 gene in a homozygous state in the CARASIL patient whereas it was heterozygous in other healthy family members.
  
  
  CONCLUSIONS
  We demonstrated homozygous c.1108 C > T mutation in the HTRA1 gene causing a very rare syndrome, especially in the non- Japanese population, called CARASIL. Patients with degenerated spine and progressive clinical symptoms must be evaluated or reevaluated for other central nervous system symptoms and signs to rule out other diseases or syndromes.
authors.affiliation: Cumhuriyet University, Faculty of Medicine, Department of Neurosurgery, Sivas, Turkey.
authors.forename: Fatih
authors.initials: F
authors.lastname: Bayrakli
authors.forename: Hatice
authors.initials: H
authors.lastname: Balaban
authors.forename: Mustafa
authors.initials: M
authors.lastname: Gurelik
authors.forename: Sami
authors.initials: S
authors.lastname: Hizmetli
authors.forename: Suat
authors.initials: S
authors.lastname: Topaktas
mesh_terms: D000328:Adult; D000505:Alopecia / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000473:pathology; D002544:Cerebral Infarction / Q000235:genetics* / Q000473:pathology; D003062:Codon / Q000235:genetics; D005260:Female; D006579:Heterozygote; D000074289:High-Temperature Requirement A Serine Peptidase 1; D006720:Homozygote; D006801:Humans; D056784:Leukoencephalopathies / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D009460:Neurologic Examination; D010291:Paresis / Q000209:etiology; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012697:Serine Endopeptidases / Q000235:genetics*; D013122:Spinal Diseases / Q000235:genetics* / Q000473:pathology
chemical_list: D003062:Codon; D000074289:High-Temperature Requirement A Serine Peptidase 1; C474012:HTRA1 protein, human; D012697:Serine Endopeptidases