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Pelizaeus-Merzbacher Disease

A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)
Also Known As:
Adult Pelizaeus-Merzbacher Disease; Atypical Pelizaeus-Merzbacher Disease; Classic Pelizaeus-Merzbacher Disease; Leukodystrophy, Hypomyelinating, 1; Pelizaeus-Merzbacher Brain Sclerosis; Pelizaeus-Merzbacher Disease, Adult; Pelizaeus-Merzbacher Disease, Atypical; Pelizaeus-Merzbacher Disease, Classic; Pelizaeus-Merzbacher Disease, Transitional; Pelizaeus-Merzbacher Sclerosis, Brain; Transitional Pelizaeus-Merzbacher Disease; Adult Pelizaeus Merzbacher Disease; Atypical Pelizaeus Merzbacher Disease; Brain Pelizaeus-Merzbacher Sclerosis; Brain Sclerosis, Pelizaeus-Merzbacher; Classic Pelizaeus Merzbacher Disease; Cockayne Pelizaeus Merzbacher Disease; Pelizaeus Merzbacher Brain Sclerosis; Pelizaeus Merzbacher Disease; Pelizaeus Merzbacher Disease, Adult; Pelizaeus Merzbacher Disease, Atypical; Pelizaeus Merzbacher Disease, Classic; Pelizaeus Merzbacher Disease, Transitional; Pelizaeus Merzbacher Sclerosis, Brain; Transitional Pelizaeus Merzbacher Disease; Cockayne-Pelizaeus-Merzbacher Disease
Networked: 248 relevant articles (4 outcomes, 14 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Hereditary Spastic Paraplegia
2. Paraplegia (Spastic Paraplegia)
3. Nervous System Diseases (Neurological Disorders)
4. Leukoencephalopathies
5. Metachromatic Leukodystrophy (Sulfatide Lipidosis)

Experts

1. Inoue, Ken: 12 articles (09/2019 - 10/2002)
2. Hobson, Grace M: 10 articles (12/2019 - 09/2004)
3. Nave, Klaus-Armin: 8 articles (10/2019 - 04/2002)
4. Garbern, James Y: 8 articles (12/2014 - 02/2005)
5. Osaka, Hitoshi: 7 articles (09/2019 - 10/2002)
6. Sperle, Karen: 6 articles (12/2019 - 12/2005)
7. Rowitch, David H: 5 articles (10/2022 - 10/2012)
8. Shimojima, Keiko: 5 articles (04/2017 - 03/2013)
9. Yamamoto, Toshiyuki: 5 articles (04/2017 - 03/2013)
10. Skoff, Robert P: 5 articles (01/2016 - 04/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pelizaeus-Merzbacher Disease:
1. Proteins (Proteins, Gene)FDA Link
2. RNA (Ribonucleic Acid)IBA
01/01/2021 - "For inherited white matter disorders resulting from overexpression of a protein, such as Pelizaeus-Merzbacher disease, emerging RNA therapies have shown success in preclinical studies and promise for rapid translation to the clinic. "
01/01/2020 - ": 4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive."
3. Phosphotransferases (Kinase)IBA
4. Myelin Proteolipid ProteinIBA
5. DNA (Deoxyribonucleic Acid)IBA
6. Myelin Basic ProteinIBA
7. Biomarkers (Surrogate Marker)IBA
8. Lamin Type B (Lamin B)IBA
9. Staphylococcal Protein A (Protein A)IBA
10. Peptides (Polypeptides)IBA

Therapies and Procedures

1. Ketogenic Diet
2. Therapeutics
3. Transplantation
4. Ligation
5. Telescopes