Adrenoleukodystrophy–neuroendocrine pathogenesis and redefinition of natural history

S Kemp, IC Huffnagel, GE Linthorst… - Nature Reviews …, 2016 - nature.com
X-Linked adrenoleukodystrophy (ALD) is a peroxisomal metabolic disorder with a highly
complex clinical presentation. ALD is caused by mutations in the ABCD1 gene, which leads …

Leukodystrophy in children: a pictorial review of MR imaging features

JE Cheon, IO Kim, YS Hwang, KJ Kim, KC Wang… - Radiographics, 2002 - pubs.rsna.org
Dysmyelinating diseases, or leukodystrophies, encompass a wide spectrum of inherited
neurodegenerative disorders affecting the integrity of myelin in the brain and peripheral …

The neuropsychiatry of inborn errors of metabolism

M Walterfang, O Bonnot, R Mocellin… - Journal of inherited …, 2013 - Springer
A number of metabolic disorders that affect the central nervous system can present in
childhood, adolescence or adulthood as a phenocopy of a major psychiatric syndrome such …

Autosomal dominant diffuse leukoencephalopathy with neuroaxonal spheroids

MS Van der Knaap, S Naidu… - Neurology, 2000 - AAN Enterprises
Objective: To provide clinical, MRI, and histopathologic findings in a rare white matter
disorder with autosomal dominant inheritance, so-called hereditary diffuse …

The neuropsychiatry of adult-onset adrenoleukodystrophy

PI Rosebush, S Garside, AJ Levinson… - The Journal of …, 1999 - Am Neuropsych Assoc
Adrenoleukodystrophy is an inherited X-linked peroxisomal disorder that preferentially
affects the adrenal cortex, testes, and brain and may occur at almost any age. Psychiatric …

Late-onset adrenoleukodystrophy associated with long-standing psychiatric symptoms

AJ Levinson, MF Mazurek - J Clin Psychiatry, 1999 - psychiatrist.com
Background: It is not commonly appreciated that patients with adrenoleukodystrophy (ALD)
can first present in adulthood with psychiatric symptoms. Method: This case study involved a …

Asymmetric cerebral lesion pattern in X-linked adrenoleukodystrophy

S Wang, JM Wu, YS Cheng - Journal of the Chinese Medical Association, 2006 - Elsevier
X-linked adrenoleukodystrophy (X-ALD) is an inherited disease caused by peroxisomal
dysfunction. X-ALD usually involves the cerebral white matter in an approximately symmetric …

CT and MR imaging of neuroaxonal leukodystrophy presenting as early-onset frontal dementia

M Mascalchi, C Gavazzi, M Morbin… - American journal …, 2006 - Am Soc Neuroradiology
CT and MR imaging showed diffuse changes of the frontal white matter and genu of the
corpus callosum with minimal atrophy and no contrast enhancement in a 41-year-old …

[PDF][PDF] Pediatric neuroradiology

WS Ball Jr - AJNR: American Journal of Neuroradiology, 2000 - Am Soc Neuroradiology
The history of any subspecialty in the field of neuroradiology is often determined by the
prominence of personal figures who contributed to and shaped its creation. There is little …

[PS][PS] Analysis of multi-image magnetic resonance acquisitions for segmentation and quantification of cerebral pathologies

L Aurdal - 1997 - aurdalweb.com
The work reported in this thesis concerns methods for making measurements of anatomical
and pathological structures as seen in MR images of the human body. Our main focus was …