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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2010-5-11
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pubmed:abstractText |
Duplications of lamin B1 (LMNB1) at 5q23 are implicated in adult-onset autosomal dominant leukodystrophy (ADLD) having been described in six families with diverse ethnic background but with a homogeneous phenotype. In a large Italian family, we recently identified a variant form of ADLD characterized clinically by absence of the autonomic dysfunction at onset described in ADLD and, on MRI, by milder cerebellar involvement with sparing of hemispheric white matter. Aim of this study was to investigate the genetic basis of this variant form of ADLD.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1468-1331
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pubmed:author |
pubmed-author:BradacG BGB,
pubmed-author:BruscoAA,
pubmed-author:BrussinoAA,
pubmed-author:CagnoliCC,
pubmed-author:CamaniniSS,
pubmed-author:CavalieriSS,
pubmed-author:DanielsVV,
pubmed-author:Di GregorioEE,
pubmed-author:GrossoEE,
pubmed-author:KünziMM,
pubmed-author:MigoneNN,
pubmed-author:PinessiLL,
pubmed-author:ScappaticciSS,
pubmed-author:SerfBB,
pubmed-author:VaulaGG
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pubmed:issnType |
Electronic
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pubmed:volume |
17
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
541-9
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:19961535-Adult,
pubmed-meshheading:19961535-Age of Onset,
pubmed-meshheading:19961535-Aged,
pubmed-meshheading:19961535-Chromosomes, Human, Pair 5,
pubmed-meshheading:19961535-DNA Copy Number Variations,
pubmed-meshheading:19961535-Family,
pubmed-meshheading:19961535-Female,
pubmed-meshheading:19961535-Gene Duplication,
pubmed-meshheading:19961535-Genetic Linkage,
pubmed-meshheading:19961535-Hereditary Central Nervous System Demyelinating Diseases,
pubmed-meshheading:19961535-Humans,
pubmed-meshheading:19961535-Italy,
pubmed-meshheading:19961535-Lamin Type B,
pubmed-meshheading:19961535-Leukodystrophy, Globoid Cell,
pubmed-meshheading:19961535-Leukoencephalopathies,
pubmed-meshheading:19961535-Male,
pubmed-meshheading:19961535-Microsatellite Repeats,
pubmed-meshheading:19961535-Middle Aged,
pubmed-meshheading:19961535-Mutation,
pubmed-meshheading:19961535-Phenotype,
pubmed-meshheading:19961535-Point Mutation,
pubmed-meshheading:19961535-Sequence Deletion
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pubmed:year |
2010
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pubmed:articleTitle |
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations.
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pubmed:affiliation |
Department of Genetics, Biology and Biochemistry, University of Torino, and SCDU.Medical Genetics, AOU San Giovanni Battista, Torino, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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