A patient with a rare leukodystrophy related to lamin B1 duplication.

Molloy, A; Cotter, O; van Spaendonk, R; Sistermans, E; Sweeney, B

dc.contributor.author	Molloy, A
dc.contributor.author	Cotter, O
dc.contributor.author	van Spaendonk, R
dc.contributor.author	Sistermans, E
dc.contributor.author	Sweeney, B
dc.date.accessioned	2012-10-15T08:46:12Z
dc.date.available	2012-10-15T08:46:12Z
dc.date.issued	2012-06
dc.identifier.citation	A patient with a rare leukodystrophy related to lamin B1 duplication. 2012, 105 (6):186-7 Ir Med J	en_GB
dc.identifier.issn	0332-3102
dc.identifier.pmid	22973660
dc.identifier.uri	http://hdl.handle.net/10147/248757
dc.description.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.
dc.language.iso	en	en
dc.rights	Archived with thanks to Irish medical journal	en_GB
dc.subject.mesh	Age of Onset
dc.subject.mesh	Disease Progression
dc.subject.mesh	Hereditary Central Nervous System Demyelinating Diseases
dc.subject.mesh	Humans
dc.subject.mesh	Lamin Type B
dc.subject.mesh	Magnetic Resonance Imaging
dc.subject.mesh	Male
dc.subject.mesh	Middle Aged
dc.title	A patient with a rare leukodystrophy related to lamin B1 duplication.	en_GB
dc.type	Article	en
dc.contributor.department	Department of Neurology, Cork University Hospital, Wilton, Cork. a.molloy@st-vincents.ie	en_GB
dc.identifier.journal	Irish medical journal	en_GB
dc.description.province	Leinster	en
refterms.dateFOA	2018-08-22T23:49:26Z
html.description.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.