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
Hauptverfasser:	Dy, Marisela E, Sims, Katherine B, Friedman, Jennifer
Format:	Artikel
Sprache:	eng
Schlagworte:	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
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