title: A patient with a rare leukodystrophy related to lamin B1 duplication.
abstract: 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.
authors.affiliation: Department of Neurology, Cork University Hospital, Wilton, Cork. a.molloy@st-vincents.ie
authors.forename: A
authors.initials: A
authors.lastname: Molloy
authors.forename: O
authors.initials: O
authors.lastname: Cotter
authors.forename: R
authors.initials: R
authors.lastname: van Spaendonk
authors.forename: E
authors.initials: E
authors.lastname: Sistermans
authors.forename: B
authors.initials: B
authors.lastname: Sweeney
mesh_terms: D017668:Age of Onset; D018450:Disease Progression; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D034921:Lamin Type B / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged
chemical_list: D034921:Lamin Type B