1 40 2 Text A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text. Citation List Month Backlog URL Address <a href="http://doi.org/10.1007/s10048-014-0411-3" target="_blank" rel="noreferrer">http://doi.org/10.1007/s10048-014-0411-3</a> Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset Publisher An entity responsible for making the resource available Neurogenetics Date A point or period of time associated with an event in the lifecycle of the resource 2014 Subject The topic of the resource Female; Humans; infant; Mutation; Age Factors; Brain; Neurodegenerative Diseases; Newborn; Cytokines; Neoplasm Proteins; RNA-Binding Proteins; White Matter Creator An entity primarily responsible for making the resource Armstrong L; Biancheri R; Shyr C; Rossi A; Sinclair G; Ross CJ; Tarailo-Graovac M; Wasserman WW; van Karnebeek CD Description An account of the resource We report the second family with AIMP1 deficiency, due to a homozygous truncating AIMP1 (g.107248613 C > T) mutation. This female showed early-onset developmental arrest, intractable epileptic spasms, microcephaly, and a rapid clinical course leading to premature death, associated with cerebral atrophy and myelin deficiency on brain MRI. Clinical and neuroimaging findings are consistent with a primary neuronal degenerative disorder, rather than with the previously reported Perlizaeus-Merzbacher-like phenotype. Given its critical role in neurofilament assembly 16, impaired myelin formation is due to neuronal/axonal dysfunction. We propose that AIMP1 deficiency be added to the differential diagnosis of infantile onset, progressive neurodegenerative disease. 2014-08 Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1007/s10048-014-0411-3" target="_blank" rel="noreferrer">10.1007/s10048-014-0411-3</a> Rights Information about rights held in and over the resource Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s). Type The nature or genre of the resource Journal Article 2014 Age Factors Armstrong L Backlog Biancheri R Brain Cytokines Female Humans Infant Journal Article Mutation Neoplasm Proteins Neurodegenerative Diseases Neurogenetics Newborn RNA-Binding Proteins Ross CJ Rossi A Shyr C Sinclair G Tarailo-Graovac M van Karnebeek CD Wasserman WW White Matter Text A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text. Citation List Month Backlog URL Address <a href="http://doi.org/10.1002/1096-8628(20010422)100:2%3C122::AID-AJMG1236%3E3.0.CO" target="_blank" rel="noreferrer">http://doi.org/10.1002/1096-8628(20010422)100:2%3C122::AID-AJMG1236%3E3.0.CO</a> Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature Publisher An entity responsible for making the resource available American Journal Of Medical Genetics Date A point or period of time associated with an event in the lifecycle of the resource 2001 Subject The topic of the resource Child; Humans; Male; Preschool; Non-U.S. Gov't; Research Support; Cells; Contracture/pathology; Cultured; Fibroblasts/metabolism; Hyaluronic Acid/metabolism; Hyaluronoglucosaminidase/blood; Joint Diseases/blood/congenital/radiography; Osteolysis/congenital; Proteoglycans/metabolism; Skin Diseases/blood/congenital/radiography Creator An entity primarily responsible for making the resource Stucki U; Spycher MA; Eich G; Rossi A; Sacher P; Steinmann B; Superti-Furga A Description An account of the resource A boy presented at age 3.5 months with joint contractures, restlessness, and pain on handling. His skin was thickened and there were livid-red macular lesions over bony prominences. Infantile systemic hyalinosis (ISH) was diagnosed, a presumably autosomal recessive, progressive, and painful disorder of as yet unknown pathogenesis. Observation over three years confirmed the diagnosis as typical changes, such as nodules on both ears, pearly papules in the perinasal folds and on the neck, fleshy nodules in the perianal region, and gingival hypertrophy, developed. Skin lesions and painful joint contractures progressed in spite of intense physiotherapy, and at age 3, the child had marked motor disability. The central nervous system (CNS) appeared to be intact and the infant showed normal mental development. Radiologic findings included marked generalized osteopenia, osteolytic erosions in the metaphyses of the long bones, and cortical thinning. Electron microscopy of two skin biopsies demonstrated deposition of floccular amorphous substance that was abundant around, and appeared to originate from, small blood vessels in the dermis, partially interfering with collagen fiber formation. Lysosomal inclusions were not seen. Serum acid hyaluronidase activity was within the normal range, and the synthesis of hyaluronic acid and proteoglycans in cultured skin fibroblasts was similar to that of control cells. A younger sister presented at age two months with painful joint contractures and discrete livid-red macules over both malleoli, and showed a similar progression of the disorder over the first year of life. The diagnosis of ISH should be considered in infants and children presenting with painful joint contractures and skin lesions. The pathogenesis of this disabling and disfiguring disorder remains unclear. Our data confirm probable autosomal recessive inheritance, and do not support lysosomal storage, hyaluronidase deficiency, or a primary collagen disorder, but indicate that the amorphous material accumulating in the skin and articular soft tissues may originate from the blood circulation. Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1002/1096-8628(20010422)100:2%3C122::AID-AJMG1236%3E3.0.CO" target="_blank" rel="noreferrer">10.1002/1096-8628(20010422)100:2%3C122::AID-AJMG1236%3E3.0.CO</a> Rights Information about rights held in and over the resource Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s). Type The nature or genre of the resource Journal Article 2001 American Journal Of Medical Genetics Backlog Cells Child Contracture/pathology Cultured Eich G Fibroblasts/metabolism Humans Hyaluronic Acid/metabolism Hyaluronoglucosaminidase/blood Joint Diseases/blood/congenital/radiography Journal Article Male Non-U.S. Gov't Osteolysis/congenital Preschool Proteoglycans/metabolism Research Support Rossi A Sacher P Skin Diseases/blood/congenital/radiography Spycher MA Steinmann B Stucki U Superti-Furga A