Journal
NEUROLOGY INDIA
Volume 70, Issue 4, Pages 1554-+Publisher
WOLTERS KLUWER MEDKNOW PUBLICATIONS
DOI: 10.4103/0028-3886.355099
Keywords
Lysophosphatidylcholines; VLCFA; very-long-chain fatty acids; X-linked adrenoleukodystrophy
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Funding
- Department of Biotechnology, Ministry of Science and Technology, New Delhi, Government of India [BT/PR26150/MED/12/768/2017]
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This study provides a comprehensive analysis of clinical, biochemical, and imaging features in a large series of X-ALD patients. Understanding the clinical characteristics and typical/atypical imaging patterns is crucial for early diagnosis and treatment.
Background and Objectives: X-linked adrenoleukodystrophy (X-ALD) occurs due to the mutation in the ABCD1-gene. Our study was to correlate the clinical, radiological, and biochemical features in a cohort of X-ALD patients. Methods: We retrospectively analyzed 48 (M: F: 47:1) biochemically confirmed cases of X-ALD, classified them as cerebral ALD (childhood, adolescent, and adult), adrenomyeloneuropathy, Addisonian only. The Magnetic Resonance Imaging (MRI) of the radiological patterns was classified based on Loes classification. Results: The various clinical phenotypes were childhood cerebral X-ALD (58.3%), adolescent cerebral X-ALD (14.6%), adult-cerebral X-ALD (20.8%), Addisonian variant (4.2%), and adrenomyeloneuropathy (AMN) (2.1%). The imaging features were posterior white matter (Pattern-1) observed in 33 (68.75%) patients, cerebellar white matter (Pattern-4) noted in 5 subjects, anterior white matter (Pattern-2) observed in 3 patients, combined parieto-occipital and frontal white matter (Pattern-5) observed in 3 patients, isolated projection fiber (Pattern-3) observed in 1 patient. Rare features of the involvement of optic tract, anterior and lateral columns of cervicodorsal cord, bilateral central tegmental tracts, basal ganglia, and tigroid appearance were observed. Interpretation: This is a comprehensive clinical, biochemical, and imaging analysis with follow-up information of one of the largest series of X-ALD patients. The knowledge regarding the clinical features, typical and atypical imaging patterns is of vital importance for early diagnosis and treatment.
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