Adult Onset Cerebral X-Linked Adrenoleuokodystrophy in 18 Cases


Adrenoleukodystrophy (ALD) is an X-linked inherited metabolic disease associated with the accumulation of very long chain fatty acids (VLCFA) in the nervous system, adrenal cortex, and testes. At least seven phenotypes can be distinguished, which are Addison only, childhood, adolescent and adult cerebral ALD, adrenomyeloneuropathy (AMN), and symptomatic or asymptomatic carriers. Children most often develop rapidly a progressive cerebral disease, whereas adults rarely develop a cerebral disease. The majority of adult-onset ALD patients are AMN. The prognosis of ALD remains unpredictable in individual patients. Family history can be very informative. The plasma VLCFA assay permits precise diagnosis. Specific changes on brain Magnetic Resonance Imaging (MRI) can have diagnostic utility. However, there is considerable overlap among adult-onset leukodystrophies. Adult onset form of cerebral X-linked ALD (AOCALD) is a rare disease. The disease progresses rapidly with widespread demyelination of the cerebral hemispheres. AOCALD is an important differential diagnosis for adults with psychiatric symptoms and progressive cognitive changes. In this article, we review on case reports of AOCALD.

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Furuhashi, Y. and Ishikawa, M. (2015) Adult Onset Cerebral X-Linked Adrenoleuokodystrophy in 18 Cases. Health, 7, 723-728. doi: 10.4236/health.2015.76086.

Conflicts of Interest

The authors declare no conflicts of interest.


[1] Luda, E. and Barisone, M.G. (2001) Adult-Onset Adrenoleukodystrophy. A Clinical and Neuropsychological Study. Neuro-logical Science, 22, 21-25.
[2] Sarah, G., Patricia, I.R., Anthony, J.L. and Michael, F.M. (1999) Late-Onset Adrenoleukodystrophy Associated with Long-Standing Psychiatric Symptoms. Journal of Clinical Psychiatry, 60, 460-468.
[3] Carra-Dalliere, C., Scherer, C., Ayrignac, X., Menjot de Champfleur, N., Bellesme, C., Labauge, P. and Verny, C. (2013) Adult-Onset Cerebral X-Linked Adre-noleukodystrophy with Major Contrast-Enhancement Mimicking Acquired Disease. Clinical Neurology and Neurosurgery, 15, 1906-1907.
[4] Inoue, S., Terada, S., Matsumoto, T., Ujike, H. and Uchitomi, Y. (2012) A Case of Adult-Onset Adrenoleukodystrophy with Frontal Lobe Dysfunction: A Novel Point Mutation in the ABCD1 Gene. Internal Medicine, 51, 1403-1406.
[5] Li, J.Y., Hsu, C.C. and Tsai, C.R. (2010) Spinocerebellar Variant of Adrenoleukodystrophy with a Novel ABCD1 Gene Mutation. Journal of Neurological Sciences, 290, 163-165.
[6] Dohle, C.I., Bannykh, S.I., Hisama, F.M. and Baehring, J.M. (2009) Leukoencephalopathy in Adults: Is It Adrenoleukodystrophy? A Case Report and Molecular Analysis. Journal of Neurological Sciences, 285, 235-237.
[7] Saito, T., Mizuno, T., Watanabe, T., Ida, M. and Nakase, H. (2008) Rapid Exacerbation in an Elderly Case of Adult- Onset X-Linked Adrenoleukodystrophy with Cerebral Corticospinal Tract Involvement. Archives of Neurology, 65, 416-417.
[8] Sutovsky, S., Petrovic, R., Chandoga, J. and Turcáni, P. (2007) Adult Onset Cerebral form of X-Linked Adrenoleukodystrophy with Dementia of Frontal Lobe Type with New L160P Mutation in ABCD1 Gene. Journal of Neurological Sciences, 263, 149-153.
[9] Hitomi, T., Mezaki, T., Tomimoto, H., Ikeda, A., Shimohama, S., Okazaki, T., Uchiyama, T. and Shibasaki, H. (2005) Long-Term Effect of Bone Marrow Transplantation in Adult-Onset Adrenoleukodystrophy. European Journal of Neurology, 12, 807-810.
[10] Larner, A.J. (2003) Adult-Onset Dementia with Prominent Frontal Lobe Dysfunction in X-Linked Adrenoleukodystrophy with R152C Mutation in ABCD1 Gene. Journal of Neurology, 10, 1253-1254.
[11] Van Geel, B.M., Assies, J., Vevering, G.J. and Barth, P.G. (1994) Predominance of Adrenomyeloneuropathy Phenotype of X-Linked Adrenoleukodystrophy in the Netherlands: A Survey of 30 Kindred. Neurology, 44, 2243-2246.
[12] Engleen, M., Kemp, S., de visser, M., van Geel, B.M., Wandres, R.J., Auboung, P. and Poll-The, B.T. (2012) X-Linked Adrenoleukodystrophy (X-ALD): Clinical Presentation and Guideline for Diagnosis, Follow-Up and Management. Orphanet Journal of Rare Disease, 7, 51.
[13] Van Geel, B.M., Assies, J., Wanders, R.J.A. and Barth, P.G. (1997) X Linked Adrenoleukodystrophy: Clinical Presentation, Diagnosis, and Therapy. Journal of Neurology Neurosurgery & Psychiatry, 63, 4-14.
[14] Moster, H.W., Moster, A.B., Naidu, S. and Bregin, A. (1991) Clinical Aspects of Adrenoleukodystrophy and Adrenomyeloneuropathy. Development Neuroscience, 13, 254-264.
[15] Furuhashi, Y. and Ishikawa, M. (2011) Adult-Onset Adrenoleukodytrophy Heralded by Auditory Hallucinations and Delusions. Psychosomatics, 52, 492-493.
[16] Brownstone, E., Voigtlander, T., Baumhackl, U. and Finsterer, J. (2013) Epilepsy in Adult X-Linked Adrenoleucodystrophy Due to the Deletion c.1415-1416delAG in Exon 5 of the ABCD1-Gene. Gene, 513, 71-74.
[17] Luda, E. and Barisone, M.G. (2001) Adult-Onset Adrenoleukodystrophy: A Clinical and Neuropsychological Study. Neurological Sciences, 22, 21-25.
[18] Sakakibara, R., Fukutake, T., Arai, K., Katayama, K., Mori, M. and Hattori, T. (2001) Unilateral Caudate Head Lesion Stimulating Brain Tumour in X-Linked Adult Onset Adrenoleukodystrophy. Journal of Neurology Neurosurgery & Psychiatry, 70, 414-415.
[19] Farrell, D.S., Lawden, M.C. and Messios, N. (2000) Radiologically Selective Visual Pathway Involvement in Adult Onset Cerebral Adrenoleukodystrophy. Journal of Neurology Neurosurgery & Psychiatry, 68, 249-251.
[20] Tan, E.K., Lim, S.H., Chan, L.L., Wong, M.C. and Tan, K.P. (1999) X-Linked Adrenoleukodystrophy: Spinocerebellar Variant. Clinical Neurology and Neurosurgery, 101, 137-140.
[21] Garside, S., Rosebush, P.I., Levinson, A.J. and Mazurek, M.F. (1999) Late-Onset Adrenoleukodystrophy Associated with Long-Standing Psychiatric Symptoms. Journal of Clinical Psychiatry, 60, 460-468.
[22] Ochi, K., Noda, K., Kawakami, H., Oka, M., Imon, Y., Mimori, Y. and Nakamura, S. (1998) Dentato-Rubral Tract Involvement in Adult-Onset Adrenoleukodystrophy. American Journal of Neuroradiology, 19, 1904.
[23] Leo, R.J. (1998) Behavioral Changes and Affective Instability Associated with Adult-Onset Adrenoleukodystrophy. Psychosomatics, 2, 176-177.
[24] Waragai, M., Takaya, Y., Hayashi, M., Shibata, N. and Koba-yashi, M. (1996) MRI of Adrenoleukodystrophy Involving Predominantly the Cerebellum and Brain Stem. Neuroradiology, 38, 788-791.
[25] van Geel, B.M., Bezman, L., Loes, D.J., Moser, H.W. and Raymond, G.V. (2001) Evolution of Phenotypes in Adult Male Patients with X-Linked Adrenoleukodystrophy. Annals of Neurology, 49, 186-194.<186::AID-ANA38>3.0.CO;2-R

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