Mutation in the HTRA1 gene in a patient with degenerated spine as a component of CARASIL syndrome.

AIM: To show the mutation in HTRA1 gene in a patient suffering from CARASIL syndrome with degenerated spine as a component of the disease.

MATERIAL AND 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.

CONCLUSION: 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.