Kate, Mahesh PundlikKesavadas, ChandrasekharanNair, MuralidharanKrishnan, SyamSoman, ManojSingh, Atampreet2012-12-042012-12-042011JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 82; 8; 888-891http://dx.doi.org/10.1136/jnnp.2009.196790https://dspace.sctimst.ac.in/handle/123456789/690Boucher-Neuhauser syndrome (BNS) is rare autosomal recessive disease, characterised by cerebellar ataxia, hypogonadotropic hypogonadism and chorio-retinal degeneration. The authors report a family (brother, 22 years and sister 24 years) with late-onset BNS (> 10 years). They had subnormal intelligence; the cerebellar ataxia was progressive over 2 years with early functional dependence. Puberty was attained in a brother with testosterone injections, while the girl had primary amenorrhoea. There were no associated visual complaints. They both had diffuse periventricular white-matter hyperintensities in cerebral cortex and diffuse cerebellar atrophy in the MRI.Neurology