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Proventus

The known leukodystrophies

 

18q Syndrome with deficiency of myelin basic protein

 

Acute Disseminated Encephalomyeolitis (ADEM)

 

Acute Disseminated Leukoencephalitis

 

Acute Hemorrhagic Leukoencephalopathy

 

Adrenoleukodystrophy X-Linked (ALD)

 

Adrenomyeloneuropathy (AMN)

 

Aicardi-Goutieres Syndrome

 

Alexander Disease

 

Adult-onset Autosomal Dominant Leukodystrophy (ADLD)

 

Autosomal Dominant Diffuse Leukoencephalopathy with neuroaxonal spheroids (HDLS)

 

Autosomal Dominant Late-Onset Leukoencephalopathy

 

Childhood Ataxia with diffuse CNS Hypomyelination (CACH or Vanishing White Matter Disease)

 

Canavan Disease

 

Cerebral Autosomal Dominant Arteropathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)

 

Cerebrtendinous Xanthomatosis (CTX)

 

Craniometaphysical Dysplasia with Leukoencephalopathy

 

Cystic Leukoencephalopathy with RNASET2

 

Extensive Cerebral White Matter abnormality without clinical symptoms

 

Familial Adult-Onset Leukodystrophy manifesting as cerebellar ataxia and dementia

 

Familial Leukodystrophy with adult onset dementia and abnormal glycolipid storage

 

Globoid Cell Leukodystrophy (Krabbe Disease)

 

Hereditary Adult Onset Leukodystrophy simulating chronic progressive multiple sclerosis

 

Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (HABC)

 

Hypomyelination, Hypogonadotropic, Hypogonadism and Hypodontia (4H Syndrome)

 

Krabbe Disease

 

Lipomembranous Osteodysplasia with Leukodystrophy (Nasu Disease)

 

Metachromatic Leukodystrophy (MLD)

 

Megalencephalic Leukodystrophy with subcortical Cysts (MLC)

 

Neuroaxonal Leukoencephalopathy with axonal spheroids (Hereditary diffuse leukoencephalopathy with spheroids - HDLS)

 

Neonatal Adrenoleukodystrophy (NALD)

 

Oculodetatoldigital Dysplasia with cerebral white matter abnormalities

 

Orthochromatic Lleukodystrophy with pigmented glia

 

Ovarioleukodystrophy Syndrome

 

Pelizaeus Merzbacher Disease (X-linked spastic paraplegia)

 

Refsum Disease

 

Sjogren-Larssen Syndrome

 

Sudanophilic Leukodystrophy

 

Van der Knaap Syndrome (Vacuolating Leukodystrophy with Subcortical Cysts or MLC)

 

Vanishing White Matter Disease (VWM) or Childhood ataxia with diffuse central nervous system hypomyelination, (CACH)

 

X-linked Adrenoleukodystrophy (X-ALD)

 

Zellweger Spectrum: Zellweger Syndrome, Neonatal Adrenoleukodystrophy, and Infantile Refsum Disease

 

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