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Article

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

Journal of neurology - 1 Aug 2013

Potic Ana, Pavlovic Aleksandra M, Uziel Graziella, Kozic Dusko, Ostojic Jelena, Rovelli Attilio, Sternic Nadezda, Bjelan Mladen, Sarto Elisa, Di Bella Daniela, Taroni Franco

Abstract excerpt

The early presentation of autonomic dysfunctions at the disease onset has been considered the mandatory clinical feature in adult-onset autosomal dominant leukodystrophy, which is a rarely recognised leukodystrophy caused by duplication of the lamin B1 gene. We report the first family with adult-onset autosomal dominant leukodystrophy and lamin B1 duplication, without the distinguishing early-appearing autonomic...

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PMID: 23681646
DOI: 10.1007/s00415-013-6958-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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