Batten disease
| Batten disease | |
|---|---|
| Other names | Spielmeyer–Vogt–Sjögren–Batten disease, Batten–Mayou disease, Vogt–Spielmeyer disease |
| Specialty | Endocrinology |
| Usual onset | 5 to 10 years old[1] |
| Causes | Genetic[1] |
| Frequency | 2 to 4 per 100,000 births in the US[1] |
Batten disease is a fatal disease of the nervous system that typically begins in childhood.[1] Onset of symptoms is usually between 5 and 10 years of age.[1] Often, it is autosomal recessive. It is the common name for a group of disorders called the neuronal ceroid lipofuscinoses (NCLs).[1] "The incidence is as high as one in 12,500 live births".[2]
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).[3] 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.[4][5] It was first described in 1903.[1]
- ^ a b c d e f g "Batten Disease Fact Sheet | National Institute of Neurological Disorders and Stroke". www.ninds.nih.gov. Archived from the original on 27 January 2022. Retrieved 30 November 2020.
- ^ Cite error: The named reference
:2was invoked but never defined (see the help page). - ^ Hobert JA, Dawson G (October 2006). "Neuronal ceroid lipofuscinoses therapeutic strategies: past, present and future". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1762 (10): 945–53. doi:10.1016/j.bbadis.2006.08.004. PMID 17049436.
- ^ Rakheja D, Narayan SB, Bennett MJ (September 2007). "Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update". Current Molecular Medicine. 7 (6): 603–8. doi:10.2174/156652407781695729. PMID 17896996.
- ^ Cooper JD (June 2008). "Moving towards therapies for juvenile Batten disease?". Experimental Neurology. 211 (2): 329–31. doi:10.1016/j.expneurol.2008.02.016. PMID 18400221. S2CID 32126291.