Batten Disease

About Batten Disease

Batten disease is the common name for a broad class of rare, fatal, inherited nervous system disorders called neuronal ceroid lipofuscinosis (NCLs). In these diseases, there are over 400 different mutations in 13 segments of DNA (genes) that interferes with the cell’s ability to recycle certain molecules and have been attributed to the 14 various forms of Batten, which differ from one another primarily when symptoms first appear. Because of the different gene mutations, signs and symptoms range in severity and progress at different rates, but one thing they have in common is that all affected have a greatly shortened life expectancy, most people living only until their late teens or twenties. The disorders generally include a combination of vision loss, epilepsy, and dementia. Eventually, people affected with Batten disease become blind, wheelchair bound, bedridden, unable to communicate, and lose all cognitive functions. Treatment options are limited to therapies that can help relieve some of the symptoms.

Forms of the NCLs include: CLN1 disease, infantile onset, symptoms often appear before age 1; CLN1 disease, juvenile onset symptoms develop around age 5 or 6; CLN2 disease, late-infantile onset, developmental delay begins around age 2; CLN2 disease, later-onset abnormalities are noticed around age 6 or 7; CLN3 disease, juvenile onset – rapidly progressive vision loss seen between ages 4 and 7; CLN4 disease, adult onset (Kufs disease type B) begins in early adulthood around age 30; CLN5 disease, variant late-infantile onset seizures and myoclonic jerks usually seen between ages 6 and 13; CLN6, variant late-infantile onset with developmental delays and behavior changes seen in early childhood; CLN6, adult onset (Kufs disease Type A) seen in early adulthood with lack of balance or coordination; CLN7, variant late-infantile onset usually develop epilepsy between ages of 3 and 7 with a rapid advancement of symptoms seen between the ages of 9 and 11; CLN8 disease with Epilepsy with Progressive Mental Retardation (EPMR) with an onset of cognitive decline and seizures beginning between ages 5 and 10; CLN8 disease, late-variant onset affected children begin showing symptoms between ages 2 and 7, which include loss of vision, cognitive problems, unsteadiness, myoclonic jerks, and behavioral changes; CLN9, juvenile onset, symptoms usually seen around age 4; CLN10 congenital, neonatal and late infantile disease typically seen soon after birth.

Other names for these diseases include: JNCL, Spielmeyer-Sjogren disease, Vogt-Spielmeyer disease, INCL, Balkan disease, Santavuori-Haltia Disease, Jansky-Bielschowsky disease, ANCL, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis Finnish variant, CLN5 disease, juvenile, CLN5 disease, adult; Neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant, CLN8 disease, late infantile, CLN8 disease, Northern epilepsy variant, NCL, Northern epilepsy variant, Progressive epilepsy-intellectual disability, Finnish type.