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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?
Neurology: Genetics, Volume 4, No. 1, Article e217, Year 2018
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Description
Objective: To describe the clinico-radiological phenotype of 3 patients harboring a homozygous novel AP4M1 pathogenic mutation. Methods: The 3 patients from an inbred family who exhibited early-onset developmental delay, tetra-paresis, juvenile motor function deterioration, and intellectual deficiency were investigated by magnetic brain imaging using T1-weighted, T2-weighted, T2∗-weighted, fluid-attenuated inversion recovery, susceptibility weighted imaging (SWI) sequences. Whole-exome sequencing was performed on the 3 patients. Results: In the 3 patients, brain imaging identified the same pattern of bilateral SWI hyposignal of the globus pallidus, concordant with iron accumulation. A novel homozygous nonsense mutation was identified in AP4M1, segregating with the disease and leading to truncation of half of the adap domain of the protein. Conclusions: Our results suggest that AP4M1 represents a new candidate gene that should be considered in the neurodegeneration with brain iron accumulation (NBIA) spectrum of disorders and highlight the intersections between hereditary spastic paraplegia and NBIA clinical presentations. Copyright © 2018 The Author(s).
Authors & Co-Authors
Roubertie, Agathe
France, Montpellier
Hopital Gui de Chauliac
France, Montpellier
Institut Des Neurosciences de Montpellier
Leboucq, Nicolas
France, Montpellier
Institut Des Neurosciences de Montpellier
France, Montpellier
Hopital Gui de Chauliac
Manès, Gaël
France, Montpellier
Institut Des Neurosciences de Montpellier
Charif, Majida
France, Angers
Biologie Neurovasculaire et Mitochondriale Intégrée
Échenne, Bernard B.
France, Montpellier
Hopital Gui de Chauliac
Goizet, Cyril
France, Talence
Centre Hospitalier Universitaire de Bordeaux
France, Bordeaux
Maladies Rares : Génétique et Métabolisme Mrgm
Guissart, Claire
France, Montpellier
Centre Hospitalier Universitaire de Montpellier
Meyer, Pierre H.
France, Montpellier
Hopital Gui de Chauliac
France, Montpellier
Université de Montpellier
Marelli, Cécilia
France, Montpellier
Hopital Gui de Chauliac
Rivier, François
France, Montpellier
Hopital Gui de Chauliac
France, Montpellier
Université de Montpellier
Bürglen, Lydie
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Horvàth, Rita
United Kingdom, Newcastle
Wellcome Trust Centre for Mitochondrial Research
Hamel, Christian P.
France, Montpellier
Institut Des Neurosciences de Montpellier
Lenaers, Guy
France, Angers
Biologie Neurovasculaire et Mitochondriale Intégrée
Statistics
Citations: 25
Authors: 14
Affiliations: 9
Identifiers
Doi:
10.1212/NXG.0000000000000217
ISSN:
23767839
Research Areas
Cancer
Genetics And Genomics