leukodystrophy


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leukodystrophy

[‚lü·kə′dis·trə·fē]
(medicine)
A condition thought to result from an inborn error of metabolism and characterized by progressive degeneration of the white matter of the cerebrum, or by defective buildup of myelin.
References in periodicals archive ?
Metachromatic leukodystrophy (MLD) is a rare and life-threatening inherited disease of the body's metabolic system occurring in approximately one in every 100,000 live births.
Ollie died of leukodystrophy which effects one in 40,000 people in the UK, and is brought on by a genetic fault affecting the brain, spinal cord and surrounding nerves.
Diffuse symmetric periventricular dysmyelinating lesions in which subcortical U-fibers and cerebellar white matter are preserved in MRI, especially on T2-weighted sequence, can be seen in other types of leukodystrophy such as Pelizeus-Merzbacher or adrenoleukodystrophy.
Adult-onset autosomal dominant leukodystrophy (ADLD) is a slowly progressive disorder presents with pyramidocerebellar syndrome.
In one of the latest examples of scientific serendipity, researchers from the Salk Institute for Biological Studies, La Jolla, Calif., found that an important quality-control mechanism in baker's yeast is closely connected to hypomyelinating leukodystrophy, a debilitating disease found in children.
Bethanie Price, who has leukodystrophy - a rare degenerative condition - was invited to watch the filming of the popular ITV talk show at ITV studios in Salford, last month.
Glucocorticoid was used to treat leukodystrophy. Three months later, the patient's cranial MRI showed that the lesion progressed significantly [Figure 1]b, and a whole-exome sequencing (WES) was performed.
5, 2005, Hunter Kelly, the son of former Buffalo Bills quarterback Jim Kelly, lost the battle against globoid-cell Leukodystrophy, or Krabbe Disease.
Sisters Zabiha and Maliha Yasin both have the life-limiting neurological disorder leukodystrophy and require round-the-clock care and attention.
Most symptoms of leukodystrophy begin shortly after birth, but others develop later in childhood or even adulthood (Venkateswaran & Banwell, 2010).
The portfolio of gene therapy programmes Orchard has acquired includes: Strimvelis, the first autologous ex vivo gene therapy for children with adenosine deaminase severe combined immunodeficiency (ADA-SCID), approved by the EMA in 2016, two late-stage clinical programmes in ongoing registrational studies for metachromatic leukodystrophy (MLD) and Wiskott Aldrich syndrome (WAS), and one clinical programme for beta thalassaemia.
Magnetic resonance imaging revealed a leukodystrophy pattern involving the cerebellar and supratentorial white matter.