000			02119na a2200349 4500
999			_c9930 _d9930
003			PC9930
005			20190930122937.0
008			130622s2013 xxx||||| |||| 00| 0 eng d
040			_cH12O
041			_aeng
100			_aMartín Hernández, Elena _91158 _eUnidad de Enfermedades Metabólicas y Mitocondriales
245	0	0	_aLate Infantile Neuronal Ceroid Lipofuscinosis: Mutations in the CLN2 Gene and Clinical Course in Spanish Patients. _h[artículo]
260			_bJournal of Child Neurology, _c2013
300			_a28(4):470-8.
500			_aFormato Vancouver: Pérez-Poyato MS, Marfa MP, Abizanda IF, Rodríguez-Revenga L, Sánchez VC, González MJ et al. Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients. J Child Neurol. 2013 Apr;28(4):470-8.
501			_aPMID: 22832778
504			_aContiene 38 referencias
520			_aLate 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.
710			_9446 _aServicio de Pediatría-Neonatología
856			_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/9/pc9930.pdf _ySolicitar documento
942			_n0 _2ddc _cART