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

Hdl Handle:
http://hdl.handle.net/10147/248757
Title:
A patient with a rare leukodystrophy related to lamin B1 duplication.
Authors:
Molloy, A; Cotter, O; van Spaendonk, R; Sistermans, E; Sweeney, B
Affiliation:
Department of Neurology, Cork University Hospital, Wilton, Cork. a.molloy@st-vincents.ie
Citation:
A patient with a rare leukodystrophy related to lamin B1 duplication. 2012, 105 (6):186-7 Ir Med J
Journal:
Irish medical journal
Issue Date:
Jun-2012
URI:
http://hdl.handle.net/10147/248757
PubMed ID:
22973660
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.
Item Type:
Article
Language:
en
MeSH:
Age of Onset; Disease Progression; Hereditary Central Nervous System Demyelinating Diseases; Humans; Lamin Type B; Magnetic Resonance Imaging; Male; Middle Aged
ISSN:
0332-3102

Full metadata record

DC FieldValue Language
dc.contributor.authorMolloy, Aen_GB
dc.contributor.authorCotter, Oen_GB
dc.contributor.authorvan Spaendonk, Ren_GB
dc.contributor.authorSistermans, Een_GB
dc.contributor.authorSweeney, Ben_GB
dc.date.accessioned2012-10-15T08:46:12Z-
dc.date.available2012-10-15T08:46:12Z-
dc.date.issued2012-06-
dc.identifier.citationA patient with a rare leukodystrophy related to lamin B1 duplication. 2012, 105 (6):186-7 Ir Med Jen_GB
dc.identifier.issn0332-3102-
dc.identifier.pmid22973660-
dc.identifier.urihttp://hdl.handle.net/10147/248757-
dc.description.abstractThe 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.en_GB
dc.language.isoenen
dc.rightsArchived with thanks to Irish medical journalen_GB
dc.subject.meshAge of Onset-
dc.subject.meshDisease Progression-
dc.subject.meshHereditary Central Nervous System Demyelinating Diseases-
dc.subject.meshHumans-
dc.subject.meshLamin Type B-
dc.subject.meshMagnetic Resonance Imaging-
dc.subject.meshMale-
dc.subject.meshMiddle Aged-
dc.titleA patient with a rare leukodystrophy related to lamin B1 duplication.en_GB
dc.typeArticleen
dc.contributor.departmentDepartment of Neurology, Cork University Hospital, Wilton, Cork. a.molloy@st-vincents.ieen_GB
dc.identifier.journalIrish medical journalen_GB
dc.description.provinceLeinsteren

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