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Esplugues de Llobregat, Spain

Perez Poyato M.S.,Hospital de Sant Joan de Deu | Mila Recansens M.,CIBER ISCIII | Mila Recansens M.,University of Barcelona | Ferrer Abizanda I.,Idibell Hospital Universitari Of Bellvitge | And 12 more authors.
Gene | Year: 2012

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.541 G > 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. © 2012 Elsevier B.V.

Perez-Poyato M.S.,Hospital Sant Joan de Deu | Marfa M.P.,Hospital Sant Joan de Deu | Marfa M.P.,CIBER ISCIII | Abizanda I.F.,Idibell Hospital Universitari Of Bellvitge | And 12 more authors.
Journal of Child Neurology | Year: 2013

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. © The Author(s) 2013.

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