Batten disease
Batten disease is a fatal disease of the nervous system that typically begins in childhood. Onset of symptoms is usually between 5 and 10 years of age. Often, it is autosomal recessive. It is the common name for a group of disorders called the neuronal ceroid lipofuscinoses (NCLs).
| Batten disease | |
|---|---|
| Other names | Spielmeyer–Vogt–Sjögren–Batten disease, Batten–Mayou disease, Vogt–Spielmeyer disease |
| Specialty | Endocrinology |
| Usual onset | 5 to 10 years old |
| Causes | Genetic |
| Frequency | 2 to 4 per 100,000 births in the US |
Although Batten disease is usually regarded as the juvenile form of NCL (or "type 3"), some physicians use the term Batten disease to describe all forms of NCL. Historically, the NCLs were classified by age of disease onset as infantile NCL (INCL), late infantile NCL (LINCL), juvenile NCL (JNCL) or adult NCL (ANCL). At least 20 genes have been identified in association with Batten disease, but juvenile NCL, the most prevalent form of Batten disease, has been linked to mutations in Battenin, the protein encoded by the CLN3 gene. It was first described in 1903.