Title : Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients - Perez-Poyato_2011_J.Inherit.Metab.Dis_34_1083 |
Author(s) : Perez-Poyato MS , Mila Recansens M , Ferrer Abizanda I , Montero Sanchez R , Rodriguez-Revenga L , Cusi Sanchez V , Garcia Gonzalez MM , Domingo Jimenez R , Camino Leon R , Velazquez Fragua R , Martinez-Bermejo A , Pineda Marfa M |
Ref : J Inherit Metab Dis , 34 :1083 , 2011 |
Abstract :
BACKGROUND: Juvenile neuronal ceroid lipofuscinosis (JNCL, NCL3, Batten disease) is usually caused by a 1.02-kb deletion in the CLN3 gene. Mutations in the CLN1 gene may be associated with a variant form of JNCL (vJNCL). We report the clinical course and molecular studies in 24 patients with JNCL collected from 1975 to 2010 with the aim of assessing the natural history of the disorder and phenotype/genotype correlations. PATIENTS AND |
PubMedSearch : Perez-Poyato_2011_J.Inherit.Metab.Dis_34_1083 |
PubMedID: 21499717 |
Gene_locus related to this paper: human-PPT1 |
Mutation | V181L_human-PPT1 |
Gene_locus | human-PPT1 |
Perez-Poyato MS, Mila Recansens M, Ferrer Abizanda I, Montero Sanchez R, Rodriguez-Revenga L, Cusi Sanchez V, Garcia Gonzalez MM, Domingo Jimenez R, Camino Leon R, Velazquez Fragua R, Martinez-Bermejo A, Pineda Marfa M (2011)
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients
J Inherit Metab Dis
34 :1083
Perez-Poyato MS, Mila Recansens M, Ferrer Abizanda I, Montero Sanchez R, Rodriguez-Revenga L, Cusi Sanchez V, Garcia Gonzalez MM, Domingo Jimenez R, Camino Leon R, Velazquez Fragua R, Martinez-Bermejo A, Pineda Marfa M (2011)
J Inherit Metab Dis
34 :1083