POLG2 deficiency causes adult‐onset syndromic sensory neuropathy, ataxia and parkinsonism
POLG2 deficiency causes adult‐onset syndromic sensory neuropathy, ataxia and parkinsonism
About this item
Full title
Author / Creator
Van Maldergem, Lionel , Besse, Arnaud , De Paepe, Boel , Blakely, Emma L. , Appadurai, Vivek , Humble, Margaret M. , Piard, Juliette , Craig, Kate , He, Langping , Hella, Pierre , Debray, François‐Guillaume , Martin, Jean‐Jacques , Gaussen, Marion , Laloux, Patrice , Stevanin, Giovanni , Van Coster, Rudy , Taylor, Robert W. , Copeland, William C. , Mormont, Eric and Bonnen, Penelope E.
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
Objective
Mitochondrial dysfunction plays a key role in the pathophysiology of neurodegenerative disorders such as ataxia and Parkinson's disease. We describe an extended Belgian pedigree where seven individuals presented with adult‐onset cerebellar ataxia, axonal peripheral ataxic neuropathy, and tremor, in variable combination with parkinsonis...
Alternative Titles
Full title
POLG2 deficiency causes adult‐onset syndromic sensory neuropathy, ataxia and parkinsonism
Authors, Artists and Contributors
Author / Creator
Besse, Arnaud
De Paepe, Boel
Blakely, Emma L.
Appadurai, Vivek
Humble, Margaret M.
Piard, Juliette
Craig, Kate
He, Langping
Hella, Pierre
Debray, François‐Guillaume
Martin, Jean‐Jacques
Gaussen, Marion
Laloux, Patrice
Stevanin, Giovanni
Van Coster, Rudy
Taylor, Robert W.
Copeland, William C.
Mormont, Eric
Bonnen, Penelope E.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5221457
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5221457
Other Identifiers
ISSN
2328-9503
E-ISSN
2328-9503
DOI
10.1002/acn3.361
