Broadening the Spectrum of Adulthood X-Linked Adrenoleukodystrophy: A Report of Two Atypical Cases

Broadening the Spectrum of Adulthood X-Linked Adrenoleukodystrophy: A Report of Two Atypical Cases

X-linked adrenoleukodystrophy (x-ALD) is a rare genetic disorder caused by a mutation in the ABCD1 gene, which encodes for a peroxisomal very long chain fatty acid transporter. Clinically, x-ALD can present a wide spectrum of different phenotypes: asymptomatic carriers, Addison only, cerebral x-ALD,...

Full description

Bibliographic Details
Main Authors: Matteo Foschi, Veria Vacchiano, Patrizia Avoni, Alex Incensi, Stella Battaglia, Vincenzo Donadio, Elena Panzeri, Maria Teresa Bassi, Rocco Liguori, Giovanni Rizzo
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-02-01
Series:Frontiers in Neurology
Subjects:
adrenoleukodystrophy
small fiber neuropathy
skin biopsy
MRI
adrenomyelopathy
brain development defects
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2019.00070/full

Internet

https://www.frontiersin.org/article/10.3389/fneur.2019.00070/full

Similar Items