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dc.contributorKate, Mahesh Pundlik-
dc.contributorKesavadas, Chandrasekharan-
dc.contributorNair, Muralidharan-
dc.contributorKrishnan, Syam-
dc.contributorSoman, Manoj-
dc.contributorSingh, Atampreet-
dc.date.accessioned2012-12-04T11:44:30Z-
dc.date.available2012-12-04T11:44:30Z-
dc.date.issued2011-
dc.identifier.citationJOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 82; 8; 888-891en_US
dc.identifier.urihttp://dx.doi.org/10.1136/jnnp.2009.196790-
dc.identifier.urihttp://dspace.sctimst.ac.in/jspui/handle/123456789/690-
dc.description.abstractBoucher-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.-
dc.publisherJOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY-
dc.subjectNeurology-
dc.titleLate-onset Boucher-Neuhauser Syndrome (late BNS) associated with white-matter changes: a report of two cases and review of literature-
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