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Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy [PDF]

Annals of Clinical and Translational Neurology
Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with ...
Chenwei Yan, Elizabeth I. Pierpont, Amena S. Fine, Reena V. Kartha   +3 more
doaj   +3 more sources

Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism [PDF]

Annals of Clinical and Translational Neurology
In this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron
Christina L. Nemeth, Mert Sisman, Jinwei Zhang, Hyeong‐geol Shin, Xu Li, Bela Turk, Ali Fatemi, Thanh Nguyen, Eric Mallack   +8 more
doaj   +3 more sources

Adrenoleukodystrophy [PDF]

Medicinski Glasnik Specijalne Bolnice za Bolesti Štitaste Žlezde i Bolesti Metabolizma "Zlatibor", 2016
Introduction: Adrenoleukodystrophy (ALD) is a disease characterized by the accumulation of very long chain fatty acids in tissues throughout the body. The most severely affected tissues are the myelin in the central nervous system, the adrenal cortex and
Nišić Tatjana, Ćirić Jasmina, Dragašević-Mišković N., Stojanović Miloš, Beleslin Biljana, Stojković Mirjana, Savić Slavica, Lalić Tijana, Barać M., Žarković Miloš   +9 more
doaj   +2 more sources

Adrenoleukodystrophy: Childhood and Adult Forms Compared

Pediatric Neurology Briefs, 1991
Saturated, very long-chain fatty acids in erythrocyte membranes, blood plasma, and mononuclear cells were studied in 4 patients with childhood-adolescent adrenoleukodystrophy, 4 patients with adult adrenoleukodystrophy and 19 normal control subjects in ...
J Gordon Millichap
doaj   +2 more sources

A Case of Adrenoleukodystrophy Presenting as Progressive Cerebellar Dysfunction [PDF]

Journal of Movement Disorders, 2009
X-linked adrenoleukodystrophy (X-ALD) is a hereditary neurological disorder affecting the nervous system and adrenal cortex. The phenotype of X-ALD ranges from the rapidly progressive cerebral form to milder adrenomyeloneuropathy.
Seunguk Jung, Jong Won Chung, Ji Young Yun, Han-Joon Kim, Beom Seok Jeon   +4 more
doaj   +2 more sources

Management of X-linked adrenoleukodystrophy in Morocco: actual situation

BMC Research Notes, 2017
Objectives X-linked adrenoleukodystrophy is a neurodegenerative disorder caused by mutations in the ABCD1 gene. Adrenomyeloneuropathy and childhood cerebral Adrenoleukodystrophy are the most common phenotypes. This paper focuses on a descriptive study of
F. Z. Madani Benjelloun, Y. Kriouile, D. Cheillan, H. Daoud-Tetouani, L. Chabraoui   +4 more
doaj   +2 more sources

A Chinese X-Linked Adrenoleukodystrophy Patient With Atypical Clinical Symptoms Contained an Undefined ABCD1 Mutation-A Case Report and Literature Review. [PDF]

Clin Case Rep
ABSTRACT X‐linked adrenoleukodystrophy (X‐ALD) is a genetic peroxisome disorder linked to ABCD1 mutation, characterized by rapid and complex clinical symptoms. We here report a case of X‐ALD manifesting solely as dysarthria, associated with an undefined mutation in the ABCD1 gene, underscoring the necessity of atypical clinical symptoms in X‐ALD ...
Zhang FQ, Zhang Z, Wang D, Yang Y, Li X.
europepmc   +2 more sources

Adrenoleukodystrophy

Pediatric Neurology Briefs, 1989
The biochemical and clinical efficacy of dietary erucic acid (C22:1) therapy for X-l inked adrenoleukodystrophy (ALD) was investigated at the Departments of Pediatrics, Human Genetics, Neurology, Medical College of Virginia, Virginia Commonwealth ...
J Gordon Millichap
doaj   +2 more sources

X-linked adrenoleukodystrophy: a clinical case

Лечащий Врач
Background. Adrenoleukodystrophy (ALD) is an orphan hereditary disease associated with severe metabolic disorders. Taking into account the late appearance of symptoms of the disease with irreversible progression, it is relevant to introduce methods of ...
V. S. Ledneva, A. S. Ivannikova, M. V. Popova, O. I. Kiyatkina, A. A. Tikhonova, N. S. Korchagina   +5 more
doaj   +2 more sources

Bone Marrow Transplant in Adrenoleukodystrophy

Pediatric Neurology Briefs, 1997
Three children with adrenoleukodystrophy (ALD) were treated with allogeneic bone marrow transplantation (BMT) at Huddinge University Hospital, Sweden.
J Gordon Millichap
doaj   +2 more sources