Patients with mutations in the CLN6 gene located on chromosome 15q21-23 present three types of clinical variants late childhood CLN6, presenting between 18 months to 8 years, the Kufs type A and Kufs type B variants of onset in adolescents and adults. [pesquisa.bvsalud.org]

• Epilepsy

  CASE REPORT We present the case of a male patient with generalized epilepsy of onset in adulthood, who was admitted for evaluation the first time, with brain magnetic resonance imaging with mild cortical atrophy; he started at age 14 with slowly progressive [pesquisa.bvsalud.org]

  CLN8 disease with Epilepsy with Progressive Mental Retardation (EPMR) Abnormalities in the CLN8 gene cause epilepsy with progressive decline in mental function. [ninds.nih.gov]

• Disability

  Children have learning disabilities and problems with concentration and memory. Some may need a feeding tube. Most children with CLN5 live into their late childhood or teenage years. [ninds.nih.gov]

• Developmental Delay

  Developmental delays begin after a few years of what seems to be a normally-developing child. Children usually develop epilepsy between the ages of 3 and 7, along with problems sleeping and myoclonic jerks. [ninds.nih.gov]

• Visual Impairment

  Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients. Mol Genet Metab. 2019;126(2):188-95. doi: 10.1016/j.ymgme.2018.12.001. [ Links ] 3. [scielo.org.co]

• Visual Impairment

  Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients. Mol Genet Metab. 2019;126(2):188-95. doi: 10.1016/j.ymgme.2018.12.001. [ Links ] 3. [scielo.org.co]

There is no cure for these disorders but a treatment for one of the forms (CLN2 disease) has been approved by the U.S. Food and Drug Administration (see Treatment section). [ninds.nih.gov]

Current and emerging treatment strategies for neuronal ceroid lipofuscinoses. CNS Drugs. 2019;33(4):315-25. doi: 10.1007/s40263-019-00620-8. [ Links ] 8. Mole S, Williams R, Goebel H. [scielo.org.co]

By studying a compound that might improve the ability of support cells to recycle glutamate and prevent glutamate toxicity within neurons, researchers hope to develop a potential therapy for children with juvenile Batten disease. [ninds.nih.gov]