A longitudinal study of Taiwanese Sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome

Background and purpose: Sialidosis type 1 (ST‐1) is a neurodegenerative disorder with limited long‐term follow‐up report. This study is to document the chronological profile of ST‐1. Methods: We perform serial analysis of 17 Taiwanese patients with ST‐1 focusing on evolution of clinical features,...

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Veröffentlicht in:	European journal of neurology 2009-08, Vol.16 (8), p.912-919
Hauptverfasser:	Lai, S.-C., Chen, R.-S., Wu Chou, Y.-H., Chang, H.-C., Kao, L.-Y., Huang, Y.-Z., Weng, Y.-H., Chen, J.-K., Hwu, W.-L., Lu, C.-S.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Ataxia - enzymology Ataxia - genetics Ataxia - physiopathology cherry-red spot myoclonus syndrome Child Disease Progression electrophysiology evoked potentials Evoked Potentials, Somatosensory Evoked Potentials, Visual Female Humans Longitudinal Studies Male Mucolipidoses - enzymology Mucolipidoses - genetics Mucolipidoses - physiopathology Mutation, Missense Myoclonus - enzymology Myoclonus - genetics Myoclonus - physiopathology NEU1 gene neuraminidase Neuraminidase - genetics Neuraminidase - metabolism Neurodegenerative Diseases - enzymology Neurodegenerative Diseases - genetics Neurodegenerative Diseases - physiopathology Seizures - enzymology Seizures - genetics Seizures - physiopathology sialidosis type 1 Taiwan Young Adult
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