Results 51 to 60 of about 1,447 (169)

Blood Biomarkers Reflecting Brain Pathology—From Common Grounds to Rare Frontiers

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Understanding pathological changes in the brain is essential for guiding treatment decisions in brain injuries and diseases. Despite significant advances in brain imaging techniques, clinical practice still faces challenges due to infrastructure reliance and high resource demands.
Isabelle Weinhofer, Paulus Rommer, Johannes Berger   +2 more
wiley   +1 more source

Adrenomyeloneuropathy Presenting With Adrenal Insufficiency

Annals of Rehabilitation Medicine, 2013
Adrenomyeloneuropathy (AMN), one of the variants of X-linked adrenoleukodystrophy (ALD), is inherited peroxisomal disorder associated with the accumulation of very long chain fatty acids (VLCFA). AMN is characterized primarily by involvements of long ascending and descending tracts of the spinal cord and peripheral neuropathy, which leads to spastic ...
Park, Hee Dong, Park, Sang Jun, Choi, Yong Min, Kang, Jin Ho   +3 more
openaire   +2 more sources

Disorders of fatty acid homeostasis

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Humans derive fatty acids (FA) from exogenous dietary sources and/or endogenous synthesis from acetyl‐CoA, although some FA are solely derived from exogenous sources (“essential FA”). Once inside cells, FA may undergo a wide variety of different modifications, which include their activation to their corresponding CoA ester, the introduction of
Frédéric M. Vaz, Sacha Ferdinandusse, Gajja S. Salomons, Ronald J. A. Wanders   +3 more
wiley   +1 more source

Evolução fenotípica na adrenoleucodistrofia.

Acta Médica Portuguesa, 2003
The X-linked adrenoleukodystrophy (ALD) is a genetic disease, caused by a defect mapped to Xq28. It is characterised by progressive demyelination of the cerebral white matter and adrenal insufficiency.
Paula Mendes, Isabel Meneses, Luis Monteiro, Teresa Coelho, Cristiana Vasconcelos, Manuela Lemos, Rita Ferreira, Maria Clara Sá Miranda   +7 more
doaj   +1 more source

Altered lipid profile and reduced neuronal support in human induced pluripotent stem cell‐derived astrocytes from adrenoleukodystrophy patients

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract X‐linked adrenoleukodystrophy (ALD) is a peroxisomal disorder resulting from pathogenic variants in the ABCD1 gene that primarily affects the nervous system and is characterized by progressive axonal degeneration in the spinal cord and peripheral nerves and leukodystrophy.
Roberto Montoro Ferrer, Yorrick R. J. Jaspers, Inge M. E. Dijkstra, Nicole Breeuwsma, Jan‐Bert van Klinken, Cato Romero, Marc Engelen, Stephan Kemp, Vivi M. Heine   +8 more
wiley   +1 more source

Progression of Spinal Cord Disease in Adult Men With Adrenoleukodystrophy

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
ABSTRACT This study presents the longest systematic prospective follow‐up of spinal cord disease in adult male ALD patients to date. Standardized yearly quantitative data collection included scoring of the EDSS, SSPROM, 6‐min walking test (6MWT), urological and quality of life questionnaires and vibration sense of the hallux.
Hemmo A. F. Yska, Marije Voermans, Eda Kabak, Marc Engelen   +3 more
wiley   +1 more source

Severity score system for progressive myelopathy: development and validation of a new clinical scale

Brazilian Journal of Medical and Biological Research, 2012
Progressive myelopathies can be secondary to inborn errors of metabolism (IEM) such as mucopolysaccharidosis, mucolipidosis, and adrenomyeloneuropathy. The available scale, Japanese Orthopaedic Association (JOA) score, was validated only for degenerative
R.M. Castilhos, D. Blank, C.B.O. Netto, C.F.M. Souza, L.N.T. Fernandes, I.V.D. Schwartz, R. Giugliani, L.B. Jardim   +7 more
doaj   +2 more sources

Peroxisomal dysfunctions cause lysosomal storage and axonal Kv1 channel redistribution in peripheral neuropathy

eLife, 2017
Impairment of peripheral nerve function is frequent in neurometabolic diseases, but mechanistically not well understood. Here, we report a novel disease mechanism and the finding that glial lipid metabolism is critical for axon function, independent of ...
Sandra Kleinecke, Sarah Richert, Livia de Hoz, Britta Brügger, Theresa Kungl, Ebrahim Asadollahi, Susanne Quintes, Judith Blanz, Rhona McGonigal, Kobra Naseri, Michael W Sereda, Timo Sachsenheimer, Christian Lüchtenborg, Wiebke Möbius, Hugh Willison, Myriam Baes, Klaus-Armin Nave, Celia Michèle Kassmann   +17 more
doaj   +1 more source

International validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophy

Journal of Inherited Metabolic Disease, Volume 47, Issue 6, Page 1336-1347, November 2024.
Abstract Background The most common manifestation of X‐linked adrenoleukodystrophy (ALD) is a slowly progressive myeloneuropathy, which leads to imbalance and gait disturbances. The variable progression of the disease complicates evaluation of its progression rate. Wearable sensors allow for easy and frequent balance and gait collection.
Hemmo A. F. Yska, Bela R. Turk, Ali Fatemi, Jordan Goodman, Marije Voermans, Dan Amos, Man Amanat, Stephanie van de Stadt, Marc Engelen, Amena Smith‐Fine, Jennifer Keller   +10 more
wiley   +1 more source

Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging

Radiology Case Reports, 2019
X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disease affecting the nervous system and the adrenal glands. It is caused by a mutation of the ABCD1 gene, resulting in the impaired degradation of very long-chain fatty acids and their ...
Clemente Dato, MD, Guglielmo Capaldo, MD, Chiara Terracciano, MD, PhD, Filomena Napolitano, MSc, PhD, Alessandra D'Amico, MD, Sabina Pappatà, MD, Filippo Maria Santorelli, MD, PhD, Giuseppe Di Iorio, MD, Simone Sampaolo, MD, PhD, Mariarosa AB Melone, MD   +9 more
doaj   +1 more source