Plp gene copy number was determined in the proband. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. Pelizaeusmerzbacher disease pmd is the prototype of hypomyelinating diseases of childhood which was firstly described as an xlinked disorder caused by mutations or. Clinical features and diagnosis of pelizaeusmerzbacher disease. It is characterized by hypomyelination and belongs to a group of genetic diseases referred to as leukodystrophies. Leukodystrophies are conditions that involve abnormalities of the nervous systems white matter, which consists of nerve fibers covered by. Herreros villaraviz and others published casos en imagen. Pelizaeusmerzbacher disease, pelizaeus merzbacherlike. The molecular and cellular defects underlying pelizaeusmerzbacher disease. Pelizaeusmerzbacher disease, connatal form concept id. Pelizaeus merzbacher disease is an inherited condition involving the brain and spinal cord central nervous system that primarily affects males. Pelizaeusmerzbacher disease is caused by mutations in the plp1.
Leukodystrophies are conditions that involve abnormalities of the nervous systems white matter, which consists of nerve fibers covered by a fatty substance called myelin. Pelizaeusmerzbacher disease genetics home reference nih. Typically, the disease begins in the first two months of life, but milder variations may not be present until childhood. If you have problems viewing pdf files, download the latest version of adobe reader. Pelizaeusmerzbacher disease foundation genetic and rare.
Disease mechanism pathogenesis animal mutants molecular. Actividades integradoras del aprendizaje por sistemas. 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. Pelizaeusmerzbacher disease is an inherited condition involving the brain and spinal cord central nervous system that primarily affects males. A novel plp mutation in a japanese patient with mild pelizaeusmerzbacher disease. An abnormal condition of a part, organ, or system of an organism resulting from various causes, such as infection, inflammation, environmental. Pelizaeusmerzbacher disease is an xlinked neurological disorder that damages oligodendrocytes in the central nervous system.
Confirmation of diagnosis is only by histopathological examination at present. A rare, slowly progressive disorder of myelin formation. Pelizaeusmerzbacher disease definition of pelizaeus. This disease is one of a group of genetic disorders called leukodystrophies. It is also sometimes called the eczemathrombocytopeniaimmunodeficiency syndrome in keeping with aldrichs original description in 1954. Pelizaeusmerzbacher disease genetic and rare diseases. Two forms have been reported, according to the severity of the presentation. It is caused by mutations in proteolipid protein 1 plp1, a major myelin protein. For language access assistance, contact the ncats public information officer. The classic form is xchromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Pelizaeusmerzbacher disease synonyms, pelizaeusmerzbacher disease pronunciation, pelizaeusmerzbacher disease translation, english dictionary definition of pelizaeusmerzbacher disease. Junto a otras enfermedades es clasificada como leucodistrofia. Pelizaeusmerzbacher disease is an xlinked leukodystrophy plp1 gene at chromosome xq22, which presents with severe white matter volume loss and dysmyelination.
In most patients it is caused by a x linked recessive mutation in the plp1 gene. A prenatal diagnosis of pelizaeusmerzbacher disease pmd resulting from proteolipid protein gene plp duplication was performed by a quantitative fluorescent multiplex pcr method. Pelizaeusmerzbacher disease, pelizaeusmerzbacherlike disease 1 hobson, garbern 63 this document was downloaded for personal use only. Gencic s, abuelo d, ambler m, hudson ld am j hum genet 1989 sep. Pelizaeusmerzbacher like disease mutations of gja12 at 1q41q42 or mct8 at xq. Merzbacher disease is a degenerative disease of the developing nervous system. Pelizaeusmerzbacherkrankheit cockaynepelizaeusmerzbacherkrankheit. Enfermedades desmielinizantes del sistema nervioso central. Pelizaeus merzbacher disease is characterized by abnormal myelin formation. Wiskottaldrich syndrome was is a rare xlinked recessive disease characterized by eczema, thrombocytopenia low platelet count, immune deficiency, and bloody diarrhea secondary to the thrombocytopenia.