title: Infantile neuronal ceroid lipofuscinosis: follow-up on a Spanish series.
abstract: Infantile neuronal ceroid lipofuscinosis (INCL; NCL1, Haltia-Santavuori disease) is caused by mutations in the CLN1/PPT gene which are associated with an early onset INCL phenotype. The most detailed descriptions of INCL have come from Finland and a few series have been reported from southern European countries. Clinical course and follow-up of six Spanish patients with INCL are reported with the aim of assessing the chronological evolution and severity of this disease. The age at disease onset ranged from 8 to 15 months. Delayed motor skills were the initial symptom when the disease began before 12 months of age, and ataxia was the first sign when the disease began later. Cognitive decline, which is described between 12 and 18 months of age, occurred from 16 to 20 months of age. In our series early stage is characterized by motor impairment, cognitive decline and autistic features. Visual failure may appear simultaneously with the neurological symptoms, leading quickly to blindness. As reported, psychomotor regression appeared between 2 and 3 years of age. Myoclonic jerks occurred after 24 months of age and epilepsy was the last symptom of the disease. We report two novel mutations in a patient without epilepsy to date and describe the features of two siblings homozygous for the V181M (c.541G>A) mutation, associated with the most severe INCL phenotype. The clinical evolution might be helpful to identify patients affected by this rare disease. Early diagnosis is essential in order to provide genetic counselling to affected families. Our series may contribute to the study of the genotype-phenotype INCL correlation in the Mediterranean countries.
authors.affiliation: Department of Pediatric Neurology, Hospital de Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain. mperez@hsjdbcn.org
authors.forename: Maria Socorro
authors.initials: MS
authors.lastname: Pérez Poyato
authors.forename: Montserrat
authors.initials: M
authors.lastname: Milá Recansens
authors.forename: Isidre
authors.initials: I
authors.lastname: Ferrer Abizanda
authors.forename: Rosario
authors.initials: R
authors.lastname: Domingo Jiménez
authors.forename: Amparo
authors.initials: A
authors.lastname: López Lafuente
authors.forename: Victoria
authors.initials: V
authors.lastname: Cusí Sánchez
authors.forename: Laia
authors.initials: L
authors.lastname: Rodriguez-Revenga
authors.forename: M Josep
authors.initials: MJ
authors.lastname: Coll Rosell
authors.forename: Laura
authors.initials: L
authors.lastname: Gort
authors.forename: Pilar
authors.initials: P
authors.lastname: Póo Argüelles
authors.forename: Mercé
authors.initials: M
authors.lastname: Pineda Marfa
mesh_terms: D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D013869:Thiolester Hydrolases / Q000235:genetics
chemical_list: D013869:Thiolester Hydrolases; C095299:palmitoyl-protein thioesterase