TPP1 deficiency: Rare cause of isolated childhood-onset progressive ataxia
Neuronal ceroid lipofuscinoses (NCLs) are neurodegenerative disorders characterized by lysosomal ceroid deposition. Historically, NCLs were classified by onset age and electron microscopy abnormalities as infantile, late infantile, juvenile, and adult.[1,2] Molecular techniques have broadened diagno...
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| Veröffentlicht in: | Neurology 2015-10, Vol.85 (14), p.1259-1261 |
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| creator | Dy, Marisela E Sims, Katherine B Friedman, Jennifer |
| description | Neuronal ceroid lipofuscinoses (NCLs) are neurodegenerative disorders characterized by lysosomal ceroid deposition. Historically, NCLs were classified by onset age and electron microscopy abnormalities as infantile, late infantile, juvenile, and adult.[1,2] Molecular techniques have broadened diagnostic subgroups with identification of at least 13 NCL genes (http://www.ucl.ac.uk/ncl/mutation), though categorization remains difficult due to wide-ranging genetic, allelic, and phenotypic heterogeneity.[1,2] |
| doi_str_mv | 10.1212/WNL.0000000000001876 |
| format | Article |
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Historically, NCLs were classified by onset age and electron microscopy abnormalities as infantile, late infantile, juvenile, and adult.[1,2] Molecular techniques have broadened diagnostic subgroups with identification of at least 13 NCL genes (http://www.ucl.ac.uk/ncl/mutation), though categorization remains difficult due to wide-ranging genetic, allelic, and phenotypic heterogeneity.[1,2]</abstract><cop>United States</cop><pub>American Academy of Neurology</pub><pmid>26224725</pmid><doi>10.1212/WNL.0000000000001876</doi><tpages>3</tpages></addata></record> |
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| ispartof | Neurology, 2015-10, Vol.85 (14), p.1259-1261 |
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| language | eng |
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| source | MEDLINE; Journals@Ovid Complete; Alma/SFX Local Collection |
| subjects | Age of Onset Ataxia - diagnosis Ataxia - etiology Ataxia - genetics Child Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - deficiency Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - genetics Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - metabolism Female Humans Neuronal Ceroid-Lipofuscinoses - metabolism Spinocerebellar Degenerations - diagnosis Spinocerebellar Degenerations - genetics |
| title | TPP1 deficiency: Rare cause of isolated childhood-onset progressive ataxia |
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