title: [Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile].
abstract: BACKGROUND
  The neuronal ceroid lipofuscinosis are classified based on age at onset into four main clinical forms in child-hood: infantile, late infantile, juvenile and congenital (CLN1, CLN2, CLN3 and CLN10). The variant late infantile forms (CLN5, CLN6, CLN7 and CLN8) are characterized by a wide variability of the clinical phenotypes and the most patients are originated from Finland and Turkey (Finnish, CLN5, and Turkish, CLN7 variants).
  
  
  METHODS
  We describe three unrelated patients with Finnish variant and another patient with Turkish variant. We describe an algorithm to facility the diagnosis of these low prevalence diseases. Patients with Finnish variant started with behaviour disorder between 2.6 and 4.6 years of age followed by learning difficulties and visual failure at an age of 6 years. Generalised tonic-clonic and myoclonic seizures were observed at 7 years of age with myoclonic jerks later on. Patients developed ataxia and blindness within 9 years and increasingly disability at 11 years of age. The patient with Turkish variant started with refractory epilepsy at age of 2, followed by a severe neurodegeneration manifested by ataxia, loss of walking ability within 2-3 years and vegetative state at 11 years of age.
  
  
  CONCLUSIONS
  The clinical spectrum of the variant late infantile forms shows a wide geographical distribution. We report three novel mutations in the CLN5 gene and a diagnostic algorithm to facility the correlation genotype-phenotype studies.
authors.affiliation: Servicio de Neurología Pediátrica, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, España. mperez@hsjdbcn.org
authors.forename: María del Socorro
authors.initials: M S
authors.lastname: Pérez-Poyato
authors.forename: Montserrat
authors.initials: M
authors.lastname: Milà-Recasens
authors.forename: Isidre
authors.initials: I
authors.lastname: Ferrer-Abizanda
authors.forename: Victoria
authors.initials: V
authors.lastname: Cusí-Sánchez
authors.forename: María
authors.initials: M
authors.lastname: Vázquez-López
authors.forename: Rafael
authors.initials: R
authors.lastname: Camino-León
authors.forename: M Josep
authors.initials: MJ
authors.lastname: Coll-Rosell
authors.forename: Laura
authors.initials: L
authors.lastname: Gort
authors.forename: Mercè
authors.initials: M
authors.lastname: Pineda-Marfà
mesh_terms: D000465:Algorithms; D002648:Child; D002675:Child, Preschool; D005260:Female; D005387:Finland; D006801:Humans; D008297:Male; D009472:Neuronal Ceroid-Lipofuscinoses / Q000145:classification / Q000175:diagnosis*; D000091346:Tripeptidyl-Peptidase 1; D014421:Turkey