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 ?
5] However, the patients with leukodystrophy carried missense, splice-site, duplication, deletion, or nonsense mutations.
Biochemical and genetic analysis of seven Korean individuals with suspected metachromatic leukodystrophy.
The present study showed that epilepsy was (56%) followed by (20%) cerebral palsy, (11%) post meningoencephalitis sequalae, (7%) intracranial hemorrhage (stroke), (3%) leukodystrophy, (1%) rickets, (1%) Down syndrome and (1%) leukoencephalopathy.
Similarly, children with metachromatic leukodystrophy are prone to healthcare- and device-associated infections involving opportunistic pathogens, and frequent use of broadspectrum antibiotics may predispose the children for infection with multidrug-resistant bacteria.
Global Markets Direct's, 'Metachromatic Leukodystrophy (MLD) - Pipeline Review, H1 2016', provides an overview of the Metachromatic Leukodystrophy (MLD) pipeline landscape.
W Stewart Alexander an Australian pathologist, as a fatal infantile leukodystrophy that is characterized by astrocytic eosinophilic inclusions containing Rosenthal fibers, mainly located in the perivascular periventricular and subpial spaces of the cerebral hemispheres, cerebellum, and brainstem (l,2).
In addition, Dr Kaye serves as a neurological consultant at the Children's Hospital of Boston; As well as a member of United Leukodystrophy Foundation, Spinal Muscular Atrophy Foundation, CureCMD, CureDuchenne and Prize4Life.
Recently a related illness metachromatic leukodystrophy was treated by Italian scientists using a similar approach, with promising results in patients.
11) Familial mutations in the gene for arylsulfatase A also result in metachromatic leukodystrophy, and adult onset can present with psychiatric symptoms, including delusions and hallucinations.
The positive results obtained in Hurler syndrome and few other LSDs and the benefit observed in our on going Phase I/II clinical trial of HSC gene therapy for the demyelinating LSD metachromatic leukodystrophy indicate that migration of the transplanted Hematopoietic Stem Cells (HSCs)/their progeny into the affected human brain occurs.
Leading the way on the special bike ride was Longlands 10-year-old Alfie Leadbeater, whose battle against the rare neurological condition Alexander's leukodystrophy continues to inspire.

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