Results 121 to 130 of about 19,093 (232)
Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis
Muscle &Nerve, Volume 73, Issue 6, Page 1082-1088, June 2026.ABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Antonio Edvan Camelo‐Filho +8 more
wiley +1 more source
Plasma NfL and GFAP as biomarkers of spinal cord degeneration in adrenoleukodystrophy
Annals of Clinical and Translational Neurology, 2020 To explore the potential of neurofilament light (NfL) and glial fibrillary acidic protein (GFAP) as biomarkers of spinal cord degeneration in adrenoleukodystrophy, as objective treatment‐outcome parameters are needed.
W. J. van Ballegoij +6 more
semanticscholar +1 more source
Disease progression in women with X-linked adrenoleukodystrophy is slow
Orphanet Journal of Rare Diseases, 2019 BackgroundOver 80% of women with X-linked adrenoleukodystrophy (ALD) develop spinal cord disease in adulthood for which treatment is supportive only. For future clinical trials quantitative data on disease progression rates are essential.
I. Huffnagel +7 more
semanticscholar +1 more source
Two novel frameshift mutations in the adrenoleukodystrophy gene in Italian patients [PDF]
, 1999 Two novel frameshift adrenoleukodystrophy mutations in two families were identified: a complex dinucleotide deletion/tetranucleotide insertion at 1116 TC→GAGA (codon 244 [serine]) and an AG deletion at nucleotide 1462 (codon 359 [glutamic acid]).
Graziella Uziel +13 more
core +1 more source
X-linked Adrenoleukodystrophy [PDF]
, 2013 International audienceX-linked adrenoleukodystrophy (X-ALD) is the most common leukodystrophy and the most frequent peroxisomal disorder, with an estimated incidence of 1:17,000. This complex neurodegenerative disorder is characterized by a huge clinical
Trompier, Doriane, Savary, Stéphane
core
Glia, 2019 X‐linked adrenoleukodystrophy (X‐ALD) and metachromatic leukodystrophy (MLD) are two relatively common examples of hereditary demyelinating diseases caused by a dysfunction of peroxisomal or lysosomal lipid degradation.
C. Bergner +13 more
semanticscholar +1 more source
A report on state‐wide implementation of newborn screening for X‐linked Adrenoleukodystrophy
American Journal of Medical Genetics. Part A, 2019 Minnesota became the fourth state to begin newborn screening (NBS) for X‐linked adrenoleukodystrophy (X‐ALD) in 2017. As there is limited retrospective data available on NBS for X‐ALD, we analyzed Minnesota's NBS results from the first year of screening.
Katie Wiens +13 more
semanticscholar +1 more source
Childhood Cerebral X-Linked Adrenoleukodystrophy More Than 5 Years After Hematopoietic Cell Transplantation: The First Case From Serbia and Southeastern Europe [PDF]
, 2010 We report the clinical course, brain magnetic resonance imaging (MRI), and proton magnetic resonance spectroscopy findings in a boy with childhood cerebral X-linked adrenoleukodystrophy whose neurological disease keeps progressing more than 5 years ...
Attilio M. Rovelli +5 more
core +1 more source
Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism[S]
Journal of Lipid Research, 2010 In humans, peroxisomes harbor a complex set of enzymes acting on various lipophilic carboxylic acids, organized in two basic pathways, α-oxidation and β-oxidation; the latter pathway can also handle ω-oxidized compounds.
Paul P. Van Veldhoven
doaj +1 more source
Journal of Clinical Endocrinology and Metabolism, 2018 Context Primary adrenal insufficiency is an important clinical manifestation of X-linked adrenoleukodystrophy (ALD). Other manifestations include spinal cord disease and/or inflammatory demyelinating cerebral disease.
I. Huffnagel +8 more
semanticscholar +1 more source