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Neurophysiology and Neuropsychology in Adrenoleukodystrophy (ALD)

  • Makiko KagaEmail author
Chapter

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.

Keywords

Adrenoleukodystrophy Neurophysiology Neuropsychology Auditory brainstem response (ABR) Visual evoked response (VEP) Wechsler intelligence scale tests Early diagnosis for early or preclinical treatment 

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Copyright information

© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  1. 1.Tokyo Metropolitan Tobu Medical Center for Children with Developmental DisabilitiesTokyoJapan
  2. 2.Department of Developmental DisordersNational Institute of Mental Health, National Center of Neurology and PsychiatryTokyoJapan

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