Batten Disease
Description
Batten disease, also known as neuronal ceroid lipofuscinoses (NCLs), is a group of rare and devastating inherited neurological disorders that primarily affect children. These disorders cause progressive deterioration of the brain and other parts of the nervous system, leading to a decline in physical and cognitive abilities. This blog will explore the various aspects of Batten disease, including its causes, symptoms, diagnosis, management, and support resources.
Genes Involved
Batten disease is caused by mutations in specific genes involved in the breakdown of cellular waste products. Different types of Batten disease are associated with mutations in different genes, including:
- CLN1: Causes infantile neuronal ceroid lipofuscinosis (INCL)
- CLN2: Causes late infantile neuronal ceroid lipofuscinosis (LINCL)
- CLN3: Causes juvenile neuronal ceroid lipofuscinosis (JNCL)
- CLN5: Causes juvenile neuronal ceroid lipofuscinosis (JNCL)
- CLN6: Causes juvenile neuronal ceroid lipofuscinosis (JNCL)
- CLN7: Causes late infantile neuronal ceroid lipofuscinosis (LINCL)
- CLN8: Causes late infantile neuronal ceroid lipofuscinosis (LINCL)
- CLN10: Causes juvenile neuronal ceroid lipofuscinosis (JNCL)
Recognizing the Signs and Symptoms
The signs and symptoms of Batten disease vary depending on the specific type and age of onset. However, some common symptoms include:
- Vision problems: Loss of vision, including night blindness and difficulty seeing in bright light
- Seizures: Occurring in most individuals with Batten disease
- Cognitive decline: Including memory problems, learning difficulties, and behavioral changes
- Motor skills impairment: Difficulty with walking, coordination, and fine motor skills
- Speech and language problems: Difficulty speaking, understanding language, and communicating
- Progressive decline: As the disease progresses, individuals may experience muscle weakness, difficulty swallowing, and respiratory problems
Causes
Batten disease is caused by genetic mutations that disrupt the normal breakdown of cellular waste products called lipofuscin. This accumulation of waste products within cells, particularly in the brain, leads to progressive damage and dysfunction. These mutations are inherited in an autosomal recessive pattern, meaning that both parents must carry the mutated gene for their child to inherit the disease.
Inheritance/recurrence risk
Batten disease is an autosomal recessive disorder, which means that both parents must carry a copy of the mutated gene for their child to inherit the disease. If both parents are carriers, there is a 25% chance that their child will inherit the disease, a 50% chance their child will be a carrier, and a 25% chance their child will not inherit the disease. If one parent has Batten disease and the other is a carrier, there is a 50% chance their child will inherit the disease.
