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

/leu·ko·dys·tro·phy/ (-dis´trah-fe) disturbance of the white substance of the brain; see also leukoencephalopathy.
globoid cell leukodystrophy  Krabbe's disease.
hereditary adult-onset leukodystrophy  an inherited leukoencephalopathy characterized by progressive degeneration of the white matter, with motor disturbances, bowel and bladder incontinence, and orthostatic hypotension.
metachromatic leukodystrophy  an inherited disorder due to accumulation of sulfatide in tissues with a diffuse loss of myelin in the central nervous system; it occurs in several forms, with increasing age of onset correlated to decreasing severity, all initially presenting as mental regression and motor disturbances.

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

[-dis′trəfē]
Etymology: Gk, leukos, white, dys + trophe, nourishment
a disease of the white matter of the brain, characterized by demyelination. See also leukoencephalopathy.
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Leukodystrophy

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]

leukodystrophy

disorders or metabolic defects in the system required for the maintenance and degradation of normally formed myelin in newborn and young animals. Clinical signs begin some time after birth. See also leukoencephalopathy.

Afghan leukodystrophy
see hereditary myelopathy of Afghan hounds.
cavitating leukodystrophy
a familial, probably inherited, disease of Dalmatian dogs in which there is blindness and progressive motor dysfunction from a few months of age.
fibrinoid leukodystrophy
a familial disease of astrocytes causing ataxia, paresis and behavioral changes from an early age; reported in Labrador retrievers. Similar to Alexander's disease in humans.
globoid cell leukodystrophy
an inherited lysosomal storage disease of polled Dorset sheep, cats, and dogs, particularly Cairn terriers and West Highland white terriers, caused by a deficiency of the enzyme beta-galactocerebrosidase. From a young age, there is weakness that progresses to paralysis. Called also galactocerebrosidosis and Krabbe's disease.
metachromatic leukodystrophy
a leukoencephalopathy reported in cats, caused by a deficiency of the enzyme arylsulfatase A. There is accumulation of a sphingolipid (sulfatide) in tissues, with diffuse loss of myelin in the central nervous system and progressive neurological dysfunction.
References in periodicals archive ?
We also have two children who were recently diagnosed with Aicardi-Goutierres leukodystrophy.
Myelin Project in Dunn Loring, VA to fund research for HSC-based ex vivo gene therapy for globoid cell leukodystrophy
Debbie's son Alfie, seven, has little control over his own body due to a rare form of the degenerative brain disease Alexander's Leukodystrophy.
The children involved in this competition will not be the only ones to benefit, as all revenue from ticket sales will be donated to the European Leukodystrophy Association which helps hundreds of youngsters affected by illness.
Kate has also recently been diagnosed with a fatal form of leukodystrophy affecting the brain.
1 Epilepsy with or after an infection, worse at night, non-focal EEG 2 Schizophrenia Seizures 3 Isolated Language Elevated blood lactate Delay 4 Cerebral Palsy Worse with infections 5 Type II Diabetes Thin, hearing loss 6 Leukodystrophy Floppy muscle tone 7 Autism Seizures 8 Sudden Infant Death Hypoglycemia Syndrome (SIDS) 9 Leukemia Maternally inherited thrombocytopenia 10 Migraines Hearing loss, strokes, diabetes 11 Early Hearing Loss Age 20-40 yrs.
The results from an EAE model indicate that this drug may also have therapeutic potential for a great number of other neurologic conditions such as Acute Disseminated Encephalomyelitis, Transverse Myelitis, Krabbe's Leukodystrophy, Alexander's Disease, Canavan's Disease and Adrenoleukodystrophy," he concluded.
He was diagnosed with the rare form of Alexander's Leukodystrophy, a condition that leaves him with little control over his own body.
The three-year-old, from Hex-ham, Northumberland, has been diagnosed with a rare strain of leukodystrophy, a disease in which the insulating coating of the nerves degenerates.
For those disorders in which <50% of patients showed an increased LAMP-1 concentration, the increased concentrations were generally seen in the younger and presumably more severe patients, in particular the metachromatic leukodystrophy, Fabry, Nieman-Pick (A/B), Nieman-Pick (C), Tay-Sachs disease, and GM-1 gangliosidosis groups.
For example, Lennox-Gastaut epilepsy, idiopathic leukodystrophy, and type II diabetes mellitus are each large groups of diseases that have dozens of causes despite their impressive and specific-sounding names.
If this could be extrapolated into a much larger number of patients with AMN, it would be considered a spectacular success for such a leukodystrophy with no prior proven therapy.

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