Batten disease is a severe, heritable nervous system disorder. Although originally used to describe only the form of the disease that begins between the ages of 5 and 10, or juvenile-onset disease, the term Batten disease is now used to describe a group of five related conditions, all collectively known as neuronal ceroid lipofuscinoses (NCLs).
NCLs are caused by the buildup of insoluble waste deposits called lipofuscins in the cells of the eye and brain, as well as skin, muscle, and many other tissues, resulting in cell death. The five broad types of NCL are discussed below.
Congenital NCL is the rarest form of the disease, with only 10 cases having been reported worldwide. Babies are born with microcephaly (very small heads) as a result of abnormal brain development. They often have seizures, difficulty breathing, and die soon after birth.
Infantile NCL (INCL, or Santavuori-Haltia disease)
Infantile NCL symptoms appear between the ages of 6 months and 2 years. It is characterized by seizures and the loss of motor ability and often progresses to a vegetative state. Some babies also develop microcephaly, and many die before age 5.
Late infantile NCL (LINCL, or Jansky-Bielschowsky disease)
Late infantile NCL appears between ages 2 and 4. Children have ataxia (loss of muscle coordination) and seizures. This form of the disease also progresses rapidly and results in loss of cognitive and motor capability. Some children live into adulthood, although most have a shorter survival rate.
Juvenile NCL (JNCL, or Spielmeyer-Vogt-Sjogren-Batten disease)
Juvenile NCL is the most common type of NCL. Symptoms begin between ages 5 and 10, usually with a loss of vision and seizures. Early symptoms can be very subtle, such as personality changes.
As the disease progresses, children lose the ability to move or communicate, and many develop dementia. This form of the disorder is often fatal in the late teens or early 20s.
Adult NCL (ANCL, Parry’s disease, or Kuf’s disease)
Adult NCL is the only form of the disease in which symptoms appear in adulthood, generally before age 40. Symptoms are milder than the other types of NCL and progress more slowly. While less severe, this form of the disease also has a reduced life expectancy.
Adult NCL is further divided into two sub-types: type A and type B. There can be an overlap in symptoms between the two sub-types, and differentiating between the two can be difficult.
- Type A is associated with progressive myoclonic epilepsy, or seizures associated with muscle contractions. Some people also experience ataxia or dysarthria (difficulty speaking as a result of muscle weakness or tremors).
- Type B has symptoms similar to type A, such as ataxia, but rarely includes seizures. Some individuals develop dementia as the disease progresses.
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