Special Issue "Genetics of Adult White Matter Diseases"

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (20 October 2021).

Special Issue Editors

Dr. Roberta La Piana
E-Mail Website
Guest Editor
1. Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, QC, Canada
2. Department of Radiology, McGill University, Montreal, QC, Canada
Interests: genetic leukoencephalopathies; white matter disorders; hereditary spastic paraplegias; Aicardi–Goutières syndrome; multiple sclerosis
Dr. Sunita Venkateswaran
E-Mail Website
Guest Editor
Department of Pediatrics, CHEO, University of Ottawa, Ottawa, ON, Canada
Interests: genetic leukoencephalopathies; brain iron accumulation; neurodegenerative; multiple sclerosis; hereditary spastic paraplegias

Special Issue Information

Dear Colleagues,

Genetic leukoencephalopathies are the most frequent white matter diseases in the pediatric population. Conversely, they are rarely considered in the differential diagnosis of adult patients presenting with white matter abnormalities. However, an increasing body of evidence suggests that a larger than expected number of adult patients have genetic leukoencephalopathies that remain too often and for too long without a diagnosis.

Over the last few years, we have witnessed growing interest in the literature for adult genetic leukoencephalopathies, either with descriptions of original adult-onset forms or expanding adult-onset phenotypes of known pediatric leukodystrophies.

In this Special Issue, we would like to invite submissions of original research articles and review articles on genetic adult white matter disorders, in particular, on their causal genes, the impact of next-generation sequencing on their diagnosis, their genetic and clinical heterogeneity, and the differences between adult and pediatric forms caused by mutations in the same gene(s).

Please contact the guest editors with questions related to the scope of this Special Issue.

Dr. Roberta La Piana
Dr. Sunita Venkateswaran
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2000 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.


  • genetic leukoencephalopathies
  • leukodystrophies
  • white matter
  • next generation sequencing
  • adult-onset

Published Papers

There is no accepted submissions to this special issue at this moment.
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