Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1

摘要: Pathogenic mutations in CYP7B1 account for SPG5, an autosomal recessive hereditary spastic paraplegia characterized by a complex phenotype including visual problems and cerebellar dysfunction. Sensory ataxia is not usually regarded as typical clinical feature of SPG5. The purpose this study was to describe six patients showing features sensory the prominent and/or initial symptoms Six from three distinct pedigrees (three women, men; age 49.5 ± 18.2 years), all presenting gait unsteadiness frequent falls since childhood, underwent molecular investigations. All showed marked ataxic with positive Romberg's sign, well severely impaired position vibration sense. Comparatively minor signs pyramidal involvement were also detected. In four patients, brain MRI white matter hyperintensities on T2-weighted images. An already reported homozygous c.889A>G (p.T297A) mutation SPG5/CYP7B1 found five two families, whereas remaining case harbored novel c.250_251delC/p.L84Ffs*6 c.266A>C/p.Y89S variants. Marked enduring can be pivotal sign expands phenotypic spectrum associated CYP7B1.