Abstract
Adrenoleukodystrophy (ALD) is an X-inked degenerative disease caused by abnormal fatty acid metabolism due to ABCD1 gene mutation. ALD is known to appear as eight clinical types, which sometimes show transitional patterns; childhood cerebral, adolescent cerebral, adult cerebral, adrenomyeloneuropathy, Addison disease, brainstem-cerebellum, female symptomatic, and asymptomatic male types. Accordingly, the early diagnosis and hematopoietic stem cell transplantation treatment of ALD are indispensable, especially for patients with the childhood/adolescent cerebral types because of the devastating nature of their disease. The evaluation and monitoring of the disease onset, the severity and speed of the disease progression, and the nervous system involvement of the disease are necessary for the treatment of symptomatic and preclinical asymptomatic ALD patients. Neurophysiological and neuropsychological procedures are the best methods for this purpose, and the procedures should be noninvasive and performed successively. Electroencephalography, the evaluation of evoked potentials (the auditory brainstem response, visual evoked response and somatosensory evoked response), and event related potentials, and the combination of these tests are informative neurophysiological examinations. The use of the Wechsler Intelligence scale tests for each age range is essential to evaluate and follow ALD patients. The location of the main lesions of ALD with focal and diffuse permeation which cause a variety of concerned focal and diffuse symptoms must also be determined. Appropriate neuropsychological tests to evaluate visual, auditory, language and behavioral functions are also essential.
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References
Cappa M, Bizzarri C, Petroni A, Carta G, Cordeddu L, Valeriani M, Vollono C, De Pasquale L, Blasevich M, Banni S (2012) A mixture of oleic, erucic and conjugated linoleic acids modulates cerebrospinal fluid inflammatory markers and improve somatosensorial evoked potential in X-linked adrenoleukodystrophy female carriers. J Inherit Metab Dis 35:899–907
Cox CS, Dubey P, Raymond GV, Mahmood A, Moser AB, Moser HW (2006) Cognitive evaluation of neurologically asymptomatic boys with X-linked adrenoleukodystrophy. Arch Neurol 63:69–73
Furushima W, Inagaki M, Gunji A, Inoue Y, Kaga M, Mizutani S (2009) Early signs of visual perception and evoked potentials in radiologically asymptomatic boys with X-linked adrenoleukodystrophy. J Child Neurol 24:927–935
Furushima W, Kaga M, Nakamura M, Gunji A, Inagaki M (2015) Auditory agnosia as a clinical symptom of childhood adrenoleukodystrophy. Brain and Development 37:690–697. https://doi.org/10.1016/j.braindev.2014.10.011. Epub 2014 Dec 26
Hitomi T, Mezaki T, Tsujii T, Kinoshita M, Tomimoto H, Ikeda A, Shimohama S, Okazaki T, Uchiyama T, Shibasaki H (2003) Improvement of central motor conduction after bone marrow transplantation in adrenoleukodystrophy. J Neurol Neurosurg Psychiatry 74:373–375
Inagaki M, Maegaki Y, Ohtani K, Asano J, Suzuki Y (1995) Reappearance of visual and somatosensory evoked potentials in a patient with childhood adrenoleukodystrophy after bone marrow transplantation and dietary erucic acid therapy. Acta Paediatr Jpn 37:125–128
Inagaki M, Kaga Y, Kaga M, Nihei K (2006) Multimodal evoked potentials in patients with pediatric leukodystrophy. Suppl Clin Neurophysiol 59:251–263
Jewett DL, Romano MN, Williston JS (1970) Human auditory evoked potentials: possible brain stem components detected on the scalp. Science 167(3924):1517–1518
Kaga K, Tokoro Y, Tanaka Y, Ushijima H (1980) The progress of adrenoleukodystrophy as revealed by auditory brainstem evoked responses and brainstem histology. Arch Otorhinolaryngol 228(1):17–27
Kaga M, Furushima W, Inagaki M, Nakamura M (2009) Early neuropsychological signs of childhood adrenoleukodystrophy (ALD). Brain Dev 31:558–561
Kaplan PW, Tusa RJ, Shankroff J, Heller J, Moser HW (1993) Visual evoked potentials in adrenoleukodystrophy: a trial with glycerol trioleate and Lorenzo oil. Ann Neurol 34:169–174
Kaplan PW, Kruse B, Tusa RJ, Shankroff J, Rignani J, Moser HW (1995) Visual system abnormalities in adrenomyeloneuropathy. Ann Neurol 37:550–552
Kaplan PW, Tusa RJ, Rignani J, Moser HW (1997) Somatosensory evoked potentials in adrenomyeloneuropathy. Neurology 48:1662–1667
Kato S (2013) Guideline for HSCT to patients with ALD. Research report to Ministry of Health Welfare and Labor, Japan
Markand ON, Garg BP, DeMyer WE, Warren C, Worth RM (1982) Brain stem auditory, visual and somatosensory evoked potentials in leukodystrophies. Electroencephalogr Clin Neurophysiol 54:39–48
Matsumoto H, Hanajima R, Terao Y, Hamada M, Yugeta A, Shirota Y, Yuasa K, Sato F, Matsukawa T, Takahashi Y, Goto J, Tsuji S, Ugawa Y (2010) Efferent and afferent evoked potentials in patients with adrenomyeloneuropathy. Clin Neurol Neurosurg 112:131–136
Moser HW, Borel J (1995) Dietary management of X-linked adrenoleukodystrophy. Annu Rev Nutr 15:379–397
Moser HW, Raymond GV, Lu SE, Muenz LR, Moser AB, Xu J, Jones RO, Loes DJ, Melhem ER, Dubey P, Bezman L, Brereton NH, Odone A (2005) Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo’s oil. Arch Neurol 62:1073–1080
Näätänen R, Gaillard AW, Mäntysalo S (1978) Early selective-attention effect on evoked potential reinterpreted. Acta Psychol 42(4):313–329
Ochs R, Markand ON, Demyer WE (1979) Brainstem auditory evoked responses in leukodystrophies. Neurology 29:1089–1093
Pillion JP, Kharkar S, Mahmood A, Moser H, Shimizu H (2006) Auditory brainstem response findings and peripheral auditory sensitivity in adrenoleukodystrophy. J Neurol Sci 247:130–137
Restuccia D, Di Lazzaro V, Valeriani M, Oliviero A, Le Pera D, Colosimo C, Burdi N, Cappa M, Bertini E, Di Biase A, Tonali P (1997) Neurophysiological abnormalities in adrenoleukodystrophy carriers. Evidence of different degrees of central nervous system involvement. Brain 120(Pt 7):1139–1148
Riva D, Bova SM, Bruzzone MG (2000) Neuropsychological testing may predict early progression of asymptomatic adrenoleukodytrophy. Neurology 54:1651–1655
Sohmer H, Feinmesser M (1970) Cochlear and cortical audiometry conveniently recorded in the same subject. Isr J Med Sci 6:219–223
Stockard JJ, Stockard JE, Sharbrough FW (1977) Detection and localization of occult lesions with brainstem auditory responses. Mayo Clin Proc 52:761–769
Sutton S, Braren M, Zubin J, John ER (1965) Evoked-potential correlates of stimulus uncertainty. Science 150:1187–1188
Wada N, Takeuchi Y, Fujiwara F, Odani I, Sawada T (1996) Adrenoleukodystrophy indicated by abnormal electro-encephalography. Acta Paediatr Jpn 38:352–356
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Kaga, M. (2019). Neurophysiology and Neuropsychology in Adrenoleukodystrophy (ALD). In: Imanaka, T., Shimozawa, N. (eds) Peroxisomes: Biogenesis, Function, and Role in Human Disease. Springer, Singapore. https://doi.org/10.1007/978-981-15-1169-1_12
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