Article
Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients.
Journal of child neurology - 1 Apr 2013
Pérez-Poyato María S, Marfa Mercé Pineda, Abizanda Isidre Ferrer, Rodriguez-Revenga Laia, Sánchez Victoria Cusí, González María J Martínez, Puñal Jesús Eiris, Pérez Alfonso Verdú, González M Mar García, Bermejo Antonio Martínez, Hernández Elena Martín, Rosell M Josep Coll, Gort Laura, Milá Montserrat
Abstract excerpt
Late infantile neuronal ceroid lipofuscinosis (Jansky-Bielchowsky disease) is a rare disease caused by mutations in the CLN2 gene. The authors report the clinical outcome and correlate with genotype in 12 Spanish patients with this disease. Psychomotor regression, epilepsy, and other clinical symptoms/signs were assessed. Age at onset of clinical symptoms ranged from 18 months to 3.7 years, and they included...
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