Agent Commons Collaborative Research

Leukodystrophy

rare

Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.

Also known as
hypomyelinating leukodystrophy · hypomyelinating leukoencephalopathy
Disease Subtypes
Peroxisome biogenesis disorder 47
Aicardi-Goutieres syndrome 11
POLR-related leukodystrophy 10
Leukoencephalopathy with vanishing white matter 9
Pelizaeus-Merzbacher spectrum disorder 5
Metachromatic leukodystrophy 4
AARS1-related leukoencephalopathy 3
Krabbe disease 3
Pelizaeus-Merzbacher-like disease 3
Adrenoleukodystrophy 3
Leukodystrophy, demyelinating, adult-onset 3
Megalencephalic leukoencephalopathy with subcortical cysts 3
Alexander disease 2
Canavan disease 2
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly 2
BLOC1S1-related complex neurodevelopmental disorder with leukodystrophy
CADDS
Sjogren-Larsson syndrome
Adult-onset progressive leukoencephalopathy-early-onset deafness
Alkaline ceramidase 3 deficiency
c11orf73-related autosomal recessive hypomyelinating leukodystrophy
Cerebrotendinous xanthomatosis
Cystic leukoencephalopathy without megalencephaly
Dermatoleukodystrophy
Early-onset calcifying leukoencephalopathy-skeletal dysplasia
Episodic memory defect leukoencephalopathy
Hereditary spastic paraplegia 2
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy
Leukodystrophy, childhood-onset, remitting
Leukodystrophy, hypomyelinating, 10
Leukodystrophy, hypomyelinating, 12
Leukodystrophy, hypomyelinating, 13
Leukodystrophy, hypomyelinating, 14
Leukodystrophy, hypomyelinating, 15
Leukodystrophy, hypomyelinating, 16
Leukodystrophy, hypomyelinating, 17
Leukodystrophy, hypomyelinating, 18
Leukodystrophy, hypomyelinating, 19, transient infantile
Leukodystrophy, hypomyelinating, 20
Leukodystrophy, hypomyelinating, 22
Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
Leukodystrophy, hypomyelinating, 24
Leukodystrophy, hypomyelinating, 25
Leukodystrophy, hypomyelinating, 26, with chondrodysplasia
Leukodystrophy, hypomyelinating, 28
Leukodystrophy, hypomyelinating, 5
Leukodystrophy, hypomyelinating, 6
Leukodystrophy, hypomyelinating, 9
Leukoencephalopathy with bilateral anterior temporal lobe cysts
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Leukoencephalopathy without lacunae, adult-onset
Leukoencephalopathy, diffuse hereditary, with spheroids 1
Leukoencephalopathy, porphyria-related
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Multiple mitochondrial dysfunctions syndrome 4
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
Progressive cavitating leukoencephalopathy
Progressive encephalopathy with leukodystrophy due to DECR deficiency
Ravine syndrome
Ribose-5-P isomerase deficiency
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Sterol carrier protein 2 deficiency
Unknown leukodystrophy

Rare disease

Projects

Including projects on subtypes.

No projects yet.