Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy

A hereditary, autosomal dominant form of Pelizaeus-Merzbacher Disease, a MULTIPLE SCLEROSIS - like syndrome, that is associated with duplication of the LAMIN B -1 (LMNB1) gene. OMIM: 169500

Also Known As:

Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant; Multiple Sclerosis-Like Disorder; Pelizaeus-Merzbacher Disease, Autosomal Dominant Or Late-Onset Type

Networked: 3 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Nervous System Diseases (Neurological Disorders)
2.	Demyelinating Diseases (Demyelinating Disease)

Experts

1.	Brusco, Alfredo: 2 articles (01/2019 - 06/2015)
2.	Brussino, Alessandro: 2 articles (01/2019 - 06/2015)
3.	Giorgio, Elisa: 2 articles (01/2019 - 06/2015)
4.	Bartoletti Stella, Anna: 1 article (01/2019)
5.	Buffo, Annalisa: 1 article (01/2019)
6.	Caiazzo, Massimiliano: 1 article (01/2019)
7.	Capellari, Sabina: 1 article (01/2019)
8.	Cattaneo, Elena: 1 article (01/2019)
9.	Cernigoj, Manuel: 1 article (01/2019)
10.	Conti, Luciano: 1 article (01/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy:

Lamin Type B (Lamin B)IBA

01/01/2019 - "As a proof-of-concept, we studied autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) due to lamin B1 (LMNB1) duplication, a hereditary, progressive and fatal disorder affecting myelin in the CNS. "
12/01/2018 - "To characterize the genetic and clinical features of patients with autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) carrying duplication and deletion upstream of lamin B1 (LMNB1). "
06/01/2015 - "A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)."
06/01/2015 - "Chromosomal rearrangements with duplication of the lamin B1 (LMNB1) gene underlie autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), a rare neurological disorder in which overexpression of LMNB1 causes progressive central nervous system demyelination. "