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Article

Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms.

Neurogenetics - 1 Feb 2011

Schuster Jens, Sundblom Jimmy, Thuresson Ann-Charlotte, Hassin-Baer Sharon, Klopstock Thomas, Dichgans Martin, Cohen Oren S, Raininko Raili, Melberg Atle, Dahl Niklas

Abstract excerpt

Adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms features micturition urgency, constipation, erectile dysfunction, and orthostatic hypotension, usually followed by pyramidal signs and ataxia. Peripheral nerve conduction is normal. The disease is often mistaken for multiple sclerosis in the initial phase. There is a characteristic pattern of white matter changes in the brain and spinal...

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Topics

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Share to Autonomic Nervous System Diseases
Share to Chromosomes, Human, Pair 5

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Duplication

Share to Genes, Dominant

Share to Hereditary Central Nervous System Demyelinating Diseases

Share to Lamin Type B

Share to Leukocytes

Share to Magnetic Resonance Imaging

Source

Identifiers

PMID: 21225301
DOI: 10.1007/s10048-010-0269-y

Genes

LMNB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms.PMID 21225301Read ↗

Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant.Semantic proximity Read ↗

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A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy.Semantic proximity Read ↗

Autosomal dominant leukodystrophy caused by lamin B1 duplications a clinical and molecular case study of altered nuclear function and disease.Semantic proximity Read ↗

Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult‐Onset Demyelinating LeukodystrophySemantic proximity Read ↗

Lamin B1 overexpression increases nuclear rigidity in autosomal dominant leukodystrophy fibroblasts.Semantic proximity Read ↗

Autosomal dominant leukodystrophy presenting as Alzheimer's-type dementia.Semantic proximity Read ↗

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).Semantic proximity Read ↗

Mice overexpressing lamin B1 in oligodendrocytes recapitulate the age-dependent motor signs, but not the early autonomic cardiovascular dysfunction of autosomal-dominant leukodystrophy (ADLD).Semantic proximity Read ↗

Mutations in the lamin B1 gene are not present in multiple sclerosis.Semantic proximity Read ↗

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