Brain MRI and electrophysiologic abnormalities in preclinical and clinical adrenomyeloneuropathy.
We describe the neurophysiologic abnormalities in 17 patients with clinical adrenomyeloneuropathy (AMN), an adult phenotype of X-linked adrenoleukodystrophy (ALD). These abnormalities also allowed the early recognition of the AMN phenotype in three asymptomatic boys with biochemically proven ALD. In 14/16 adult AMN patients, there were cerebral white matter abnormalities on MRI which were severe and comparable with cerebral ALD in four of the patients.
Aubourg
P
P
Unité INSERM U342, Hôpital Saint-Vincent de Paul, Paris, France.
Adamsbaum
C
C
Lavallard-Rousseau
M C
MC
Lemaitre
A
A
Boureau
F
F
Mayer
M
M
Kalifa
G
G
D000224:Addison Disease / Q000150:complications; D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D000328:Adult; D001921:Brain / Q000473:pathology*; D003711:Demyelinating Diseases / Q000175:diagnosis; D005071:Evoked Potentials; D005500:Follow-Up Studies; D008040:Genetic Linkage; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009420:Nervous System / Q000503:physiopathology; D009431:Neural Conduction; D010525:Peripheral Nerves / Q000503:physiopathology; D010641:Phenotype; D013116:Spinal Cord / Q000473:pathology; D014960:X Chromosome