Browsing Cork University Hospital by Authors
A patient with a rare leukodystrophy related to lamin B1 duplication.Molloy, A; Cotter, O; van Spaendonk, R; Sistermans, E; Sweeney, B; Department of Neurology, Cork University Hospital, Wilton, Cork. email@example.com (2012-06)The hereditary leukodystrophies are rare disorders caused by molecular abnormalities leading to destruction of or failure of development of central white matter. For almost 30 years there has been increasing recognition of later onset Autosomal Dominant Leukodystrophy (ADLD). We report the first genetically confirmed case of lamin B1 duplication causing ADLD from Ireland.