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Neuronal Ceroid Lipofuscinosis Type 6
Adult Neuronal Ceroid Lipofuscinosis

Presentation

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]

Onset

  • Onset in Adolescence

    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]

Treatment

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]

Prevention

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]

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