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A patient with a rare leukodystrophy related to lamin B1 duplication.
Molloy, A Cotter, O van Spaendonk, R Sistermans, E Sweeney, B
Molloy, A
Cotter, O
van Spaendonk, R
Sistermans, E
Sweeney, B
Citations
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Advisors
Editors
Other Contributors
Date
2012-06
Date Submitted
Keywords
Other Subjects
Subject Mesh
Age of Onset
Disease Progression
Hereditary Central Nervous System Demyelinating Diseases
Humans
Lamin Type B
Magnetic Resonance Imaging
Male
Middle Aged
Disease Progression
Hereditary Central Nervous System Demyelinating Diseases
Humans
Lamin Type B
Magnetic Resonance Imaging
Male
Middle Aged
Planned Date
Start Date
Collaborators
Principal Investigators
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Article6570.pdf
Adobe PDF, 6.15 KB
Alternative Titles
Publisher
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.
Language
en
ISSN
0332-3102
eISSN
ISBN
DOI
PMID
22973660