In males, who have only one x chromosome, a mutation in the only copy of the plp1 gene in each cell is sufficient to cause. Pelizaeus merzbacher disease pmd is an xlinked developmental defect. Clinical presentation patients may present with pendular eye movements hypotonia pyramidal disease pathology gene. Pelizaeusmerzbacher disease articles including various medical information on symptoms, causes, and treatments.
These features may allow a presumptive clinical diagnosis to be made in other cases, thereby. A condition is considered xlinked if the mutated gene that causes the disorder is located on the x chromosome, one of the two sex chromosomes in each cell. It thus affects both the peripheral nervous system and the central nervous system manifesting as a leukodystrophy. A rare, slowly progressive disorder of myelin formation. Pelizaeus merzbacher disease articles including various medical information on symptoms, causes, and treatments.
It is caused by mutations in proteolipid protein 1 plp1, a major myelin protein. Pelizaeus merzbacher disease pmd is an xlinked leukodystrophy which is characterized by an arrest in myelin development. Clinical and mutational spectrum of colombian patients. Education exhibit continuing medical educationfree access. Pelizaeusmerzbacher disease genetic and rare diseases nih. Traditionally pelizaeus merzbacher disease has divided into two subtypes. Jungeun cheon, inone kim, yong seung hwang, ki joong kim, kyuchang wang, byungkyu cho, je geun chi, chong jai kim, woo sun kim, kyung mo yeon. The authors describe an infant with several clinical features which are apparently unique to this disease. Adult pelizaeusmerzbacher disease atypical pelizaeusmerzbacher disease classic pelizaeusmerzbacher disease pelizaeusmerzbacher disease, adult pelizaeusmerzbacher disease, atypical. Jungeun cheon, inone kim, yong seung hwang, ki joong kim.
Pelizaeusmerzbacher disease genetics home reference nih. Pelizaeusmerzbacher disease is an xlinked neurological disorder that damages oligodendrocytes in the central nervous system. M ashrafi, et al products play a major role in the development of oligodendrocytes for myelination 3. If you have problems viewing pdf files, download the latest version of adobe reader. Pelizaeus merzbacher disease pmd is the prototype of hypomyelinating diseases of childhood which was firstly described as an xlinked disorder caused by mutations or rearrangements in the. I would like to learn more about this condition, including its causes, symptoms, treatment and. Clinical and mutational spectrum of colombian patients with. It thus affects both the peripheral nervous system and the central nervous s. Disease mechanism pathogenesis animal mutants molecular april 29, 2010 pathogenesis genotype. Leukodystrophies are conditions that involve abnormalities of the nervous systems white matter, which consists of nerve fibers covered by a fatty substance called myelin.
The classic form is xchromosome linked, has its onset in infancy and is associated with a. Spinal and bulbar muscular atrophy sbma, popularly known as kennedys disease, is a progressive debilitating neurodegenerative disorder resulting in muscle cramps and progressive weakness due to degeneration of motor neurons in the brainstem and spinal cord the condition is associated with mutation of the androgen receptor ar gene and is inherited in an xlinked recessive manner. Disease mechanism pathogenesis animal mutants molecular april 29, 2010 pathogenesis genotype phenotype. There is a history of pelizaeusmerzbacher disease in my family. For language access assistance, contact the ncats public information officer. Krabbe disease, also known as globoid cell leukodystrophy, is an autosomal recessive lysosomal storage disorder resulting in damage to cells involved in myelin turnover. Pelizaeusmerzbacher disease pmd is an xlinked leukodystrophy which is characterized by an arrest in myelin development. It is characterized by hypomyelination and belongs to a group of genetic diseases referred to as leukodystrophies. Enfermedades desmielinizantes del sistema nervioso central. Herreros villaraviz and others published casos en imagen. Pelizaeusmerzbacher disease radiology reference article. In the context of medical genetics, xlinked recessive disorders manifest in males who have one copy of the x chromosome and are thus hemizygotes, but generally not in female heterozygotes who have one mutant and one normal allele.
Junto a otras enfermedades es clasificada como leucodistrofia. Peter f hamilton commonwealth epub to pdf sandtanis. Confirmation of diagnosis is only by histopathological examination at present. Pelizaeusmerzbacher disease pmd is the prototype of hypomyelinating diseases of childhood which was firstly described as an xlinked disorder caused by mutations or rearrangements in the. It is a type of leukodystrophy and is characterized by problems with. Education exhibit continuing medical education free access. Pelizaeusmerzbacher krankheit, cockaynepelizaeusmerzbacherkrankheit. Merzbacher disease is a degenerative disease of the developing nervous system.
This disease is one of a group of genetic disorders called leukodystrophies. The full text of this article is available in pdf format. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. Pelizaeus merzbacher disease is the result of abnormalities of the proteolipidprotein plp1 gene locus at xq22. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 toll free. Pelizaeusmerzbacher disease is a disorder that affects the brain and spinal cord. Pelizaeus merzbacher disease is inherited in an xlinked pattern. Pelizaeusmerzbacher disease foundation genetic and rare.
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