Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging.

Brain FDG-PET Cortical and subcortical atrophy Frontal lobe dysfunction Missense mutation X-linked adrenoleukodystrophy (X-ALD)

Journal

Radiology case reports
ISSN: 1930-0433
Titre abrégé: Radiol Case Rep
Pays: Netherlands
ID NLM: 101467888

Informations de publication

Date de publication:
Mar 2019
Historique:
received: 18 07 2018
accepted: 12 11 2018
entrez: 15 12 2018
pubmed: 14 12 2018
medline: 14 12 2018
Statut: epublish

Résumé

X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disease affecting the nervous system and the adrenal glands. It is caused by a mutation of the

Identifiants

DOI: 10.1016/j.radcr.2018.11.007 PMID: 30546814 PMC: PMC6282458
pubmed: 30546814
doi: 10.1016/j.radcr.2018.11.007
pii: S1930-0433(18)30316-9
pmc: PMC6282458
doi:

Types de publication

Case Reports

Langues

eng

Pagination

309-314

Références

Appl Clin Genet. 2015 May 02;8:109-21
pubmed: 25999754
J Nucl Med. 1987 Apr;28(4):524-7
pubmed: 3494828
Brain. 2014 Mar;137(Pt 3):693-706
pubmed: 24480483
Intern Med. 2012;51(11):1403-6
pubmed: 22687851
Am J Med Genet. 1987 Apr;26(4):833-8
pubmed: 3591825
Neurology. 2003 Aug 12;61(3):369-74
pubmed: 12913200
Neurology. 2014 Sep 9;83(11):981-9
pubmed: 25098542
Biochim Biophys Acta. 2006 Dec;1763(12):1721-32
pubmed: 16949688
Brain. 1997 Aug;120 ( Pt 8):1485-508
pubmed: 9278636
J Biol Chem. 2013 Jun 28;288(26):19269-79
pubmed: 23671276
Nat Clin Pract Neurol. 2007 Mar;3(3):140-51
pubmed: 17342190
FASEB J. 2008 Dec;22(12):4201-8
pubmed: 18757502
Hum Mutat. 2005 Feb;25(2):222
pubmed: 15643618
Parkinsonism Relat Disord. 2012 Feb;18(2):210-2
pubmed: 21907609

Auteurs

Clemente Dato (C)

Department of Medical, Surgical, Neurological, Metabolic Sciences, and Aging, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", Via Sergio Pansini, 80131 Naples, Italy.

Guglielmo Capaldo (G)

Department of Medical, Surgical, Neurological, Metabolic Sciences, and Aging, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", Via Sergio Pansini, 80131 Naples, Italy.

Chiara Terracciano (C)

Department of Medical, Surgical, Neurological, Metabolic Sciences, and Aging, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", Via Sergio Pansini, 80131 Naples, Italy.

Filomena Napolitano (F)

Department of Medical, Surgical, Neurological, Metabolic Sciences, and Aging, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", Via Sergio Pansini, 80131 Naples, Italy.

Alessandra D'Amico (A)

Department of Advanced Biomedical Sciences, "Federico II" University, Via Sergio Pansini, 80131 Naples, Italy.

Sabina Pappatà (S)

Institute of Biostructure and Bioimaging, National Research Council, Via Pietro Castellino 111, 80131 Naples, Italy.

Filippo Maria Santorelli (FM)

IRCCS Stella Maris, Molecular Medicine and Neuromuscular Disorders, Viale del Tirreno 331, 56128 Pisa, Calambrone, Italy.

Giuseppe Di Iorio (G)

Department of Medical, Surgical, Neurological, Metabolic Sciences, and Aging, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", Via Sergio Pansini, 80131 Naples, Italy.

Simone Sampaolo (S)

Department of Medical, Surgical, Neurological, Metabolic Sciences, and Aging, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", Via Sergio Pansini, 80131 Naples, Italy.

Mariarosa Ab Melone (MA)

Department of Medical, Surgical, Neurological, Metabolic Sciences, and Aging, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", Via Sergio Pansini, 80131 Naples, Italy.
Sbarro Institute for Cancer Research and Molecular Medicine, Department of Biology, Center for Biotechnology, College of Science and Technology, Temple University, 1803 N. Broad Street, Philadelphia, PA 19122, USA.

Classifications MeSH