A common process associated with oxidative stress and severe mitochondrial impairment is the opening of the mitochondrial permeability transition pore, as described in many neurodegenerative diseases. Thus, inhibition of mitochondrial permeability transition pore opening represents a potential target for inhibiting mitochondrial-driven cell death. Among the mitochondrial permeability transition...

how to cite this article: karimzadeh p, jafari n, nejad biglari hb, jabbehdari s, alizadeh m, alizadeh gh, nejad biglari hm, sanii s. the clinical features and diagnosis of adrenoleukodystrophy: a case series of iranian family. iran j child neurol. winter 2016; 10(1):61-64. abstract objective adrenoleukodystrophy disorder is one of the x-linked genetic disorders caused by the myelin sheath brea...

X-linked adrenoleukodystrophy is a severe and progressive neurodegenerative disease caused by the peroxisomal transporter ATP-binding cassette, subfamily D, member 1 gene mutations. The defect of this gene product results in accumulation of very-long-chain fatty acids in organs and serum, central demyelination, and peripheral axonopathy. Although there are different magnetic resonance (MR) find...

X-linked adrenoleukodystrophy (X-ALD) is a hereditary neurological disorder affecting the nervous system and adrenal cortex. The phenotype of X-ALD ranges from the rapidly progressive cerebral form to milder adrenomyeloneuropathy. However, cerebellar manifestations are rare. We report a case of adrenoleukodystrophy presenting as progressive cerebellar dysfunction resembling olivopontocerebellar...

X-linked adrenoleukodystrophy (XALD) is an inherited disorder of peroxisomal metabolism. Atypical presentations have been occasionally reported in literature. However, extrapyramidal and cerebellar manifestations are distinctly rare. We report a patient of X-linked adrenoleukodystrophy with cranial and cervical dystonia and neurological presentation resembling spinocerebellar degeneration follo...

3. Korenke GC, Roth C, Krasemann E, Hufner M, Hunneman DH, Hanefeld F. Variability in endocrinological dysfunction in 55 patients with X-linked adrenoleukodystrophy: clinical laboratory and genetic findings. Eur J Endocrinol 1997; 137: 40-47. 4. Laureti S, Casucci G, Santerusanio F, Angeletti G, Aubourg P, Brunetti P. X linked adrenoleukodystrophy is a frequent cause of idiopathic Addison’s dis...

PURPOSE To determine whether pontomedullary corticospinal tract involvement is a common and specific finding of adrenoleukodystrophy on MR images. METHODS MR images of 10 patients with biochemically proved adrenoleukodystrophy who were examined during the last 6 years were reviewed retrospectively to determine the frequency of corticospinal tract involvement in the medulla, pons, mesencephalo...