Brain MRI and electrophysiologic abnormalities in preclinical and clinical adrenomyeloneuropathy

Aubourg, Patrick; Adamsbaum, C.; Lavallard-Rousseau, Marie-Claude; Lemaître, Anne-Laure; Boureau, F; Mayer, M.; Kalifa, G.

doi:10.1212/wnl.42.1.85

Cited by 60 publications

(26 citation statements)

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“…The adult-onset presentation is often adrenomyeloneuropathy that clinically manifests as a progressive spastic paraparesis. MRI of the brain shows white-matter disease in approximately 50% of cases (Aubourg et al, 1992;Eichler et al, 2007). Adult cerebral ALD, a more aggressive form with prominent cognitive decline and psychiatric symptoms, will evolve in approximately 10% of cases.…”

Section: Adrenoleukodystrophymentioning

confidence: 99%

Genetics of primary progressive multiple sclerosis

Cree

2014

Handbook of Clinical Neurology

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Section: Adrenoleukodystrophymentioning

confidence: 99%

Genetics of primary progressive multiple sclerosis

Cree

2014

Handbook of Clinical Neurology

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“…Various degrees of an additional brain involvement are observed in about 45% of the AMN patients, better referred to as adreno-leuko-myelo-neuropathy (5). Delineation of brain abnormalities is valuable for differentiation of adult ALD phenotypes and for prognostic and therapeutic considerations (6)(7)(8). Moser et al (3) reported that 60% of ALD/AMN patients with neurologic deficits suffer from adrenocortical insufficiency.…”

Section: Introductionmentioning

confidence: 99%

Testicular dysfunction in adrenomyeloneuropathy

Brennemann

Köhler²,

Zierz

et al. 1997

European Journal of Endocrinology

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Adrenomyeloneuropathy (AMN) is a disorder due to a disturbance in the peroxisomal b-oxidation of saturated very long chain fatty acids. It is characterized by symptoms of the nervous as well as the endocrine systems, especially the adrenal cortex and the gonads. We investigated the testicular function in 49 male AMN patients aged 36.2 Ϯ 1.5 years (range, 18.5-59 years). Twenty-four of these patients were suffering from adrenocortical insufficiency. Twenty-five AMN patients showed neurological symptoms without ' Addison's disease'. To register the frequency and the degree of gonadal impairment, LH and FSH, testosterone, free testosterone and inhibin-B were determined. Gonadotropin concentrations were significantly higher in AMN patients than in healthy controls (LH, 8.0 Ϯ 1.2 vs 2.77 Ϯ 0.11 IU/l; FSH, 10.1 Ϯ 1.6 vs 4.0 Ϯ 0.17 IU/l; P < 0.001). Serum LH was elevated in 31 patients (63.3%); 28 patients (57.1%) showed elevated serum FSH indicating deficient spermatogenesis. Mean testosterone did not differ significantly between patients and healthy controls, but mean free testosterone was significantly lower in patients than in controls (16.3 Ϯ 1.0 vs 28.5 Ϯ 1.68 pg/ml, P < 0.002). Inhibin-B concentrations did not differ between AMN patients and healthy men. The testosterone/LH ratio reflecting an impairment of the Leydig cells was significantly lower in AMN patients than in controls (P < 0.01). An impairment of the Leydig cells and/or of the Sertoli cells was evident in 81.6% of AMN patients. Twenty-one of thirty-nine patients (53.8%) admitted erectile dysfunction.These data indicate that endocrine dysfunction in AMN is not only confined to adrenocortical functions, but testicular dysfunctions also frequently occur, thus permitting the term 'adreno-testiculomyelo-neuropathy'.

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“…Visualevoked potentials (VEP) in X-ALD become abnormal once there are extensive demyelinating lesions in the occipital white matter, somatosensory-evoked potentials and motor-evoked responses even later in the course of the disease. Even patients with a normal MRI may have an abnormal neurophysiologic pattern identical to that seen in adrenomyeloneuropathy (AMN) patients (evidently milder in term of abnormalities); usually BAER are first to be abnormal, then somatosensory-evoked potential of the lower limbs and then motor-evoked responses to lower limbs [12].…”

Section: Evoked Potentialsmentioning

confidence: 99%