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Engelen, M., Kemp, S., de Visser, M., van Geel, B., Wanders, R., Aubourg, P. and Poll-The, B.T. (2012) X-Linked Adrenoleukodystrophy (X-ALD): Clinical Presentation and Guidelines for Diagnosis, Follow-Up and Management. Orphanet Journal of Rare Diseases, 7, 51.
http://dx.doi.org/10.1186/1750-1172-7-51

has been cited by the following article:

• TITLE: Adult-Onset Adrenoleukodystrophy with Frontal Lobe Symptoms: A Case Report

  AUTHORS: Maiko Hayashida, Jun Horiguchi

  KEYWORDS: Adrenoleukodystrophy, Very Long Fatty Acid, Frontal Lobe Symptoms

  JOURNAL NAME: Open Journal of Psychiatry, Vol.5 No.2, April 10, 2015

  ABSTRACT: ALD, which is the X-linked adrenoleukodystrophy (X-ALD), is a rare inherited metabolic disease caused by an enzyme deficiency leading to accumulation of saturated very long chain fatty acid (VLCFA), especially in brain and adrenal cortex. Its prevalence is currently estimated at 1:30,000 to 50,000 in males in Japan. We report a 34-year-old man, who acts of theft, peep and obscenity with adult onset cerebral adrenoleukodystrophy (ALD). An elevated VLCFA and a point mutation in the ABCD1 gene confirmed the diagnosis of ALD. Diffusion-weighted MRI revealed a high intensity area in the white matter of the frontal lobes. T2-weighted image revealed diffuse high signal intensity in the deep white matter. MR diffusion-weighted image revealed high signal intensity area in the white matter of the frontal lobes.Proton magnetic resonance spectroscopy(H-MRS) of the white matter of the frontal lobes revealed an extreme decrease ofN-acetylaspartate (NAA) and an increase of the choline (Cho)/creatinine (Cr) ratio. The mildhypoperfusion was detected in the both cerebral hemispheres by the single photon emission CT (SPECT). The genetic phenotype was detected and he was diagnosed adult onset ALD. The only neurological sign was deviant behaviors as frontal lobe symptoms; despite a diffuse high signal intensity was detected in the deep white matter in the MRI examination. Psychiatric symptomatology is presented and may be one of the earliest manifestations of ALD. Psychiatrists as well as and physicians may encounter ALD.