The juvenile gangliosidoses: A timeline of clinical change
Background: The gangliosidoses are rare inherited diseases that result in pathologic accumulation of gangliosides in the central nervous system and other tissues, leading to severe and progressive neurological impairment and early death in the childhood forms. No treatments are currently approved fo...
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| Format: | Article |
| Language: | English |
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Elsevier
2020-12-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426920301221 |
| _version_ | 1818391321818169344 |
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| author | Kelly E. King Sarah Kim Chester B. Whitley Jeanine R. Jarnes-Utz |
| author_facet | Kelly E. King Sarah Kim Chester B. Whitley Jeanine R. Jarnes-Utz |
| author_sort | Kelly E. King |
| collection | DOAJ |
| description | Background: The gangliosidoses are rare inherited diseases that result in pathologic accumulation of gangliosides in the central nervous system and other tissues, leading to severe and progressive neurological impairment and early death in the childhood forms. No treatments are currently approved for the gangliosidoses, and development of treatments is impaired by limited understanding of the natural history of these diseases. Objective: The objective of this study is to improve understanding of the juvenile gangliosidoses phenotypes and the late-infantile phenotypic subtype. Methods: Through a prospective natural history study of subjects with juvenile GM1- and GM2-gangliosidosis, a timeline of clinical changes was developed for the classic juvenile phenotypes and the late-infantile phenotypes and results of serial neurodevelopmental testing was analyzed. Results: Several candidate ‘outcome measures’ were identified: changes in ambulation and verbalization skills, the communication domain from neurodevelopmental testing and the caregiver-reported socialization domain. Conclusions: The most common symptoms leading caregivers to seek a genetic diagnosis were changes in ambulation and verbalization. |
| first_indexed | 2024-12-14T05:11:40Z |
| format | Article |
| id | doaj.art-e306b9a94ee64abb8754254838b58a21 |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-12-14T05:11:40Z |
| publishDate | 2020-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-e306b9a94ee64abb8754254838b58a212022-12-21T23:15:56ZengElsevierMolecular Genetics and Metabolism Reports2214-42692020-12-0125100676The juvenile gangliosidoses: A timeline of clinical changeKelly E. King0Sarah Kim1Chester B. Whitley2Jeanine R. Jarnes-Utz3Department of Pediatrics, University of Minnesota, 2450 Riverside Avenue, Minneapolis, MN 55454-1450, USADepartment of Experimental and Clinical Pharmacology, College of Pharmacy, University of Minnesota, 420 Delaware St SE, MMC 446, Minneapolis, MN 55455-0341, USA; Advanced Therapies Program, University of Minnesota (UMMC) and Fairview Hospitals, Minneapolis, MN 55454, USADepartment of Pediatrics, University of Minnesota, 2450 Riverside Avenue, Minneapolis, MN 55454-1450, USA; Gene Therapy Center, University of Minnesota, 420 Delaware St SE, MMC 391, Minneapolis, MN 55455-0341, USA; Department of Experimental and Clinical Pharmacology, College of Pharmacy, University of Minnesota, 420 Delaware St SE, MMC 446, Minneapolis, MN 55455-0341, USA; Advanced Therapies Program, University of Minnesota (UMMC) and Fairview Hospitals, Minneapolis, MN 55454, USADepartment of Pediatrics, University of Minnesota, 2450 Riverside Avenue, Minneapolis, MN 55454-1450, USA; Gene Therapy Center, University of Minnesota, 420 Delaware St SE, MMC 391, Minneapolis, MN 55455-0341, USA; Department of Experimental and Clinical Pharmacology, College of Pharmacy, University of Minnesota, 420 Delaware St SE, MMC 446, Minneapolis, MN 55455-0341, USA; Advanced Therapies Program, University of Minnesota (UMMC) and Fairview Hospitals, Minneapolis, MN 55454, USA; Corresponding author at: Department of Pediatrics, University of Minnesota, 2450 Riverside Avenue, Minneapolis, MN 55454-1450, USA.Background: The gangliosidoses are rare inherited diseases that result in pathologic accumulation of gangliosides in the central nervous system and other tissues, leading to severe and progressive neurological impairment and early death in the childhood forms. No treatments are currently approved for the gangliosidoses, and development of treatments is impaired by limited understanding of the natural history of these diseases. Objective: The objective of this study is to improve understanding of the juvenile gangliosidoses phenotypes and the late-infantile phenotypic subtype. Methods: Through a prospective natural history study of subjects with juvenile GM1- and GM2-gangliosidosis, a timeline of clinical changes was developed for the classic juvenile phenotypes and the late-infantile phenotypes and results of serial neurodevelopmental testing was analyzed. Results: Several candidate ‘outcome measures’ were identified: changes in ambulation and verbalization skills, the communication domain from neurodevelopmental testing and the caregiver-reported socialization domain. Conclusions: The most common symptoms leading caregivers to seek a genetic diagnosis were changes in ambulation and verbalization.http://www.sciencedirect.com/science/article/pii/S2214426920301221GM1-gangliosidosisTay-Sachs diseaseDisease progressionChildAdolescentInherited metabolic diseases |
| spellingShingle | Kelly E. King Sarah Kim Chester B. Whitley Jeanine R. Jarnes-Utz The juvenile gangliosidoses: A timeline of clinical change Molecular Genetics and Metabolism Reports GM1-gangliosidosis Tay-Sachs disease Disease progression Child Adolescent Inherited metabolic diseases |
| title | The juvenile gangliosidoses: A timeline of clinical change |
| title_full | The juvenile gangliosidoses: A timeline of clinical change |
| title_fullStr | The juvenile gangliosidoses: A timeline of clinical change |
| title_full_unstemmed | The juvenile gangliosidoses: A timeline of clinical change |
| title_short | The juvenile gangliosidoses: A timeline of clinical change |
| title_sort | juvenile gangliosidoses a timeline of clinical change |
| topic | GM1-gangliosidosis Tay-Sachs disease Disease progression Child Adolescent Inherited metabolic diseases |
| url | http://www.sciencedirect.com/science/article/pii/S2214426920301221 |
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