Batten disease is a genetic disorder. It's inherited (passed down through families). It only happens when both parents are carriers of a gene with a mutation (mistake). For a baby to be born with Batten disease, both parents must pass along a copy of the faulty gene.
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.
In 2021, the gene therapy for Batten disease developed by New Zealand researchers – and funded by Cure Kids (and others) – received US FDA approval for clinical trials. The New Zealand researchers are hopeful that results for humans will be similar to what they have seen in sheep.
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.
Because the disease is recessive, children must have two copies of a CLN mutation — one from each parent — to be affected. Siblings of affected children have a one in four chance of also developing the disease, and a 50 percent chance of being a carrier.
It isn't possible to prevent Batten disease. If you have a family member or child with the disorder, talk to your provider about genetic counseling. Before you get pregnant, you may choose to get a DNA test to see if you and your partner both have the gene that causes Batten disease.
Batten disease is a fatal, inherited disorder of the nervous system that typically begins in childhood. Early symptoms of this disorder usually appear between the ages of 5 and 10 years, when parents or physicians may notice a previously normal child has begun to develop vision problems or seizures.
The disease is thought to affect 2 to 4 of every 100,000 people living in the U.S., and about 1 in every 100,000 worldwide. It takes its name from British pediatrician Frederick Batten, who first described its symptoms in 1903.
Also known as Spielmeyer-Vogt-Sjogren-Batten disease, Batten disease is the most common form of a group of disorders called neuronal ceroid lipofuscinoses (or NCLs).
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.
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.
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 and other forms of NCL are relatively rare, occurring in an estimated 2 to 4 of every 100,000 births in the United States. These disorders appear to be more common in Finland, Sweden, other parts of northern Europe, and Newfoundland, Canada, although the disease has been identified worldwide.
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.
Brineura (cerliponase alfa) is the only treatment approved by the U.S. Food and Drug Administration to treat Batten disease It is designed to replace the TPP1 enzyme and slow the loss of walking ability in children with late infantile Batten disease, also know as CLN2 disease.
Batten disease is named after the British pediatrician Frederick Batten, who first described it in 1903. Also known as Spielmeyer-Vogt-Sjögren-Batten disease, it is the most common form of a group of disorders called neuronal ceroid lipofuscinosis (NCL).
Sickle cell disease is an inherited blood disorder and the most common inherited disease worldwide, affecting over 400,000 babies annually with the greatest burden of disease within sub-Saharan Africa.
Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16.
Although the disease was initially recognised in 1903 by Dr Frederik Batten, it wasn't until 1995 that the first genes causing NCL were identified. Since then over 400 mutations in 13 different genes have been described that cause the various forms of NCL disease.
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.
Progressive vision loss, and eventually blindness, are the hallmarks of juvenile neuronal ceroid lipofuscinosis (JNCL) or CLN3-Batten disease.
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.
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.