It can be caused by genetic mutations in any of more than a dozen known genes, collectively referred to as CLN genes (CLN1, CLN2, etc). Because the disease is recessive, children must have two copies of a CLN mutation — one from each parent — to be affected.
Batten disease is an inherited metabolic disorder. It's passed down through families, and it results from a genetic mutation (gene change). The disorder affects the cells' ability to break down and get rid of cellular waste. The body can't dispose of proteins, sugars and lipids (fats), so they build up.
Juvenile NCL (Batten Disease) begins between the ages of 5 and 8. The typical early signs are progressive vision loss, seizures, ataxia or clumsiness. This form progresses less rapidly and ends in death in the late teens or early 20s, although some may live into their 30s.
Based on the age of onset, Batten disease can be grouped into five types: congenital, infantile, late infantile, juvenile, and adult. Congenital Batten disease occurs from birth and is the most severe, but also the rarest, type. Babies with this type of the disease usually die soon after birth.
Visual impairment presents as the first symptom in more than 80% of cases of JNCL at a mean age of 5 years. Retinal examination often shows a bull's-eye maculopathy, temporal optic disc pallor, peripheral retinal pigment epithelial disturbance (including bone spicule formation), and retinal vascular attenuation.
There are five major forms of Batten Disease: Infantile: Onset 6 months – Life Expectancy: 5-10 years of age. Classic Late Infantile: Onset 2-5 years – Life Expectancy: 8-12 years of age. Variant Late Infantile: Onset 2-5 years – Life Expectancy: 8-13 years of age.
There's currently no known cure for any form of Batten disease, but the FDA approved an enzyme replacement therapy for CLN2 disease (TTP1 deficiency) called cerliponase alfa (Brineura) for one of the forms (CLN2 disease) in 2017. Symptoms like seizures can be improved with certain medications.
Batten disease is sometimes misdiagnosed in its early stages; epilepsy, seizure disorders, autism, and pervasive developmental disorder (PDD) often being suspected. However, several different tests can help to confirm the presence of NCL.
Batten disease (also known as neuronal ceroid lipofuscinosis, NCL) is the name for a group of inherited nervous system disorders that most often begin in childhood. They interfere with a cell's ability to recycle a cellular residue called lipofuscin.
Childhood dementia results from progressive brain damage and is caused by over 70 rare genetic disorders including Niemann-Pick type-C, Batten disease and Sanfilippo syndrome.
What is the prognosis? Without treatment, affected children suffer loss of their sight, mental impairment, worsening seizures, and the progressive loss of their motor skills. Eventually, those with one of 13 forms of Batten disease become bedridden, require 24-hour care, and die prematurely.
Autoantibodies to brain proteins are present in Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease) patients and the Cln3−/− mouse model of this disease, suggesting an autoimmune component to pathogenesis.
It takes years for the diagnosis: Juvenile Batten Disease - an extremely rare, terrible and terminal prognosis. There is no cure for Batten Disease, and after living only 16 years, Kennedy leaves behind a great legacy of love and friendship. But her story doesn't end at her death. That's when the miracles really begin.
CLN2 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease. All these disorders affect the nervous system and typically cause worsening problems with vision, movement, and thinking ability.
Epidemiology. Batten disease is the most common neurodegenerative disorder in childhood. It can result from mutations in 1-13 genes, and the worldwide prevalence of Batten disease is about 1 in 100,000 live births.
Eventually, children with Batten Disease/NCL become blind, bedridden, and unable to communicate and it is presently always fatal. Batten Disease is not contagious nor preventable.
Batten disease is a family of primarily autosomal recessive, progressive neuropaediatric disorders, also known as neuronal ceroid lipofuscinoses (NCLs), characterized by seizures and visual, cognitive and motor decline, ending in premature death.
Progressive vision loss, and eventually blindness, are the hallmarks of juvenile neuronal ceroid lipofuscinosis (JNCL) or CLN3-Batten disease.
While the symptoms of most types of Batten disease, also known as neuronal ceroid lipofuscinosis or NCL, occur at birth or during childhood, this form's age of onset can range from 25 to 50.
Currently, most diagnoses of Batten disease are made by genetic testing. Possible diagnostic tests include: DNA analysis/genetic testing. DNA analysis can confirm the presence of one of the mutated genes that cause an NCL disease, as well as be used in prenatal diagnosis of the disease.
Faulty genes linked to Batten disease cause deficiencies in key enzymes within lysosomes, leading to the buildup of waste in lysosomes and injury to tissues and cells, particularly within the central nervous system. The affected CLN gene also determines the age of symptom onset and rate of progression.
CLN8 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease. All these disorders affect the nervous system and typically cause worsening problems with vision, movement, and thinking ability.
The first approved treatment for any form of Batten disease. BRINEURA® (cerliponase alfa) is indicated to slow the loss of ambulation in symptomatic pediatric patients 3 years of age and older with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), also known as tripeptidyl peptidase 1 (TPP1) deficiency.