title: Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients.
abstract: 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 delayed speech and simple febrile seizures followed by epilepsy. Partial seizures and myoclonic jerks occurred at an earlier age (median 3.4 and 3.7 years, respectively) than ataxia and cognitive decline (median 4 years). Clinical regression was initiated by loss of sentences (median 3.7 years) followed by loss of walking ability and absence of language (median 4.5 years). Patients showed blindness and lost sitting ability at similar age (median 5 years). The authors report 4 novel mutations in the CLN2 gene. This study provides detailed information about the natural history of this disease.
authors: Department of Pediatric Neurology, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.
authors: María S
authors: MS
authors: Pérez-Poyato
authors: Mercé Pineda
authors: MP
authors: Marfa
authors: Isidre Ferrer
authors: IF
authors: Abizanda
authors: Laia
authors: L
authors: Rodriguez-Revenga
authors: Victoria Cusí
authors: VC
authors: Sánchez
authors: María J Martínez
authors: MJ
authors: González
authors: Jesús Eiris
authors: JE
authors: Puñal
authors: Alfonso Verdú
authors: AV
authors: Pérez
authors: M Mar García
authors: MM
authors: González
authors: Antonio Martínez
authors: AM
authors: Bermejo
authors: Elena Martín
authors: EM
authors: Hernández
authors: M Josep Coll
authors: MJ
authors: Rosell
authors: Laura
authors: L
authors: Gort
authors: Montserrat
authors: M
authors: Milá
mesh_terms: D000293:Adolescent; D000626:Aminopeptidases / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases / Q000235:genetics*; D018450:Disease Progression; D004827:Epilepsy / Q000209:etiology / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D045586:Intranuclear Inclusion Bodies / Q000473:pathology / Q000648:ultrastructure; D008297:Male; D009154:Mutation / Q000235:genetics*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D011597:Psychomotor Performance / Q000502:physiology*; D012044:Regression Analysis; D012189:Retrospective Studies; D057057:Serine Proteases / Q000235:genetics*; D013030:Spain; D018709:Statistics, Nonparametric; D000091346:Tripeptidyl-Peptidase 1
chemical_list: D000091346:Tripeptidyl-Peptidase 1; D057057:Serine Proteases; D000626:Aminopeptidases; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; C000717267:TPP1 protein, human