CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL

• DOI: 10.1212/wnl.0b013e3181cff70d
• Publication Date: 2010-02-16T19:29:14Z
• Authors: W. Xin; T. E. Mullen; R. Kiely; J. Min; X. Feng; Y. Cao; L. O'Malley; Y. Shen; C. Chu-Shore; S. E. Mole; H. H. Goebel; K. Sims
• Keywords: Neuronal ceroid lipofuscinosis; Batten disease

To explore a potential expansion of the phenotypic and genotypic characteristics Finnish variant late-infantile neuronal ceroid lipofuscinosis (NCL), we screened collection 47 patients with clinically diagnosed NCL in whom no molecular diagnosis had been made.We used PCR amplification genomic DNA, followed by fluorescent-labeled dideoxy-nucleotide chain termination sequencing multiplex ligation-dependent probe amplification, to screen our cohort for mutations CLN5. We collected ethnic background, clinical, pathologic information, as available, clarify breadth CLN5 disease expression possible genotype-phenotype correlations.We identified 10 pathogenic mutations, including 11 not previously described: 4 missense, 5 out-of-frame insertion/deletion 2 large intragenic deletions. also documented 3 reported mutations. The age at onset this is predominantly juvenile rather than late infantile. Importantly, have adult-onset who share common allele. majority presented motor visual impairments seizures. In those available longitudinal data, most progressed global neurodevelopmental failure seizures within 1 years.Our study suggests that 1) are more (NCL) reported, 2) found non-Finnish broad diversity, 3) can be adult epochs. genetic testing warranted wider population clinical features suggestive an disorder.