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Article

A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations.

European journal of neurology - 1 Apr 2010

Brussino A, Vaula G, Cagnoli C, Panza E, Seri M, Di Gregorio E, Scappaticci S, Camanini S, Daniele D, Bradac G B, Pinessi L, Cavalieri S, Grosso E, Migone N, Brusco A

Abstract excerpt

BACKGROUND AND PURPOSE: 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,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hereditary Central Nervous System Demyelinating Diseases

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Source

Identifiers

PMID: 19961535
DOI: 10.1111/j.1468-1331.2009.02844.x

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.

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