leukodystrophy


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leukodystrophy

 [loo″ko-dis´tro-fe]
disturbance of the white substance of the brain. See also adrenoleukodystrophy and leukoencephalopathy.
metachromatic leukodystrophy a hereditary leukoencephalopathy, marked by accumulation of a sphingolipid (sulfatide) in tissues, with diffuse loss of myelin in the central nervous system and progressive dementia and paralysis; classified according to age of onset as infantile, juvenile, and adult.

leu·ko·dys·tro·phy

(lū'kō-dis'trŏ-fē),
Term for a group of white matter diseases, some familial, characterized by progressive cerebral deterioration usually in early life, and pathologically by primary absence or degeneration of the myelin of the central and peripheral nervous systems with glial reaction; probably related to a defect in lipid metabolism; most leukodystrophies are autosomal recessive, several are X-linked recessive, and a few are autosomal dominant.
See also: Canavan disease.
[leuko- + G. dys, bad, + trophē, nourishment]

leukodystrophy

(lo͞o′kō-dĭs′trə-fē)
n.
Any of various genetic, usually inherited diseases characterized by a defect in the development or maintenance of myelin.

leukodystrophy

Neurology A heterogeneous group of disorders of cerebral myelin or its metabolism–eg, Krabbe's disease, metachromatic leukodystrophy, 'sphingolipidoses', that share certain pathological features Clinical 'White matter disease', ie predominantly motor, dominated by progressive paralysis and ataxia rather than dementia. See Globoid cell leukodystrophy.

leu·ko·dys·tro·phy

(lū'kō-dis'trŏ-fē)
A group of white matter diseases, some familial, characterized by progressive cerebral deterioration in early life and primary absence or degeneration of the myelin of the central and peripheral nervous systems; probably related to a defect in lipid metabolism; the adult type of Pelizaeus-Merzbacher disease is inherited as an autosomal dominant trait.
Synonym(s): leucodystrophy.
[leuko- + G. dys, bad, + trophē, nourishment]
References in periodicals archive ?
Additional programs for neurometabolic disorders, primary immune deficiencies and hemoglobinopathies are all based on lentiviral vector-based gene modification of autologous HSCs and include three advanced registrational studies for metachromatic leukodystrophy (MLD), ADA-SCID and Wiskott-Aldrich syndrome (WAS), clinical programs for X-linked chronic granulomatous disease (X-CGD), transfusion-dependent beta-thalassemia (TDT) and mucopolysaccharidosis type I (MPS-I), as well as an extensive preclinical pipeline.
Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31.
Due to the loss of myelin insulation around nerves, people with hypomyelinating leukodystrophy have delayed development, intellectual disabilities, and impaired movement.
Early diagnosis and prompt treatment can result in a better prognosis for patients who are prone to misdiagnosis of other neurological diseases such as leukodystrophy.
The loss of Hunter dug deep into Jim, who made Leukodystrophy the emphasis of his post-NFL career, through his foundation Hunter's Hope.
Imaging findings are that of a nonspecific leukodystrophy with sparing of subcortical U fibers and early cerebellar involvement.
Canavan disease (CD) is a leukodystrophy characterized by the degeneration of white matter that is replaced by fluid, thereby causing vacuolating myelinopathy (1, 2).
The second case involved a child with metachromatic leukodystrophy who was found to have A.
Metachromatic leukodystrophy (MLD) is a genetic disorder caused by the deficiency of the enzyme arylsulfatase A (ARSA) in lipid metabolism [1-3].
POL-III [4H leukodystrophy (4H)] leukodystrophy is characterised by a triad of hypomyelination, hypodontia, and hypogonadotropic hypogonadism [8].
Vanishing white matter disease (VWM) is autosomal recessive leukodystrophy linked to mutations in translation initiation factor 2B (eIF2B), and it is the only brain disease recognized to date, which involves this initiation factor.