| Popis: |
Neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, jointly account for the highest incidences of hereditary neurodegenerative disease in childhood. This disease is mainly presented by vision loss, ataxia, premature mortality in later stages, and epileptic seizures. NCLs are categorized into different types that rely on deficiencies in several genes. CLN6 is one of the identified NCLs, and a mutated gene affects a transmembrane protein embedded in the Endoplasmic Reticulum (RM). Here, we report two cases presenting clinical features of CLN6. A homozygous novel mutation NM_017882.2: Exon 7: c.268A>G (p.Asn90Asp) as well as another homozygous mutation in NM_017882.2: Exon 3: c.679G |
