PT - JOURNAL ARTICLE AU - Kate, Mahesh Pundlik AU - Kesavadas, Chandrasekharan AU - Nair, Muralidharan AU - Krishnan, Syam AU - Soman, Manoj AU - Singh, Atampreet TI - Late-onset Boucher–Neuhäuser Syndrome (late BNS) associated with white-matter changes: a report of two cases and review of literature AID - 10.1136/jnnp.2009.196790 DP - 2011 Aug 01 TA - Journal of Neurology, Neurosurgery & Psychiatry PG - 888--891 VI - 82 IP - 8 4099 - http://jnnp.bmj.com/content/82/8/888.short 4100 - http://jnnp.bmj.com/content/82/8/888.full SO - J Neurol Neurosurg Psychiatry2011 Aug 01; 82 AB - Boucher–Neuhäuser 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.