Infantile onset and others
What is the cause?
The gene called CLN1 lies on chromosome 1. CLN1 disease is inherited as an autosomal recessive disorder, which means that both chromosomes carry mutations in the CLN1 gene, and both parents are unaffected carriers. The gene was discovered in 1995. CLN1 normally directs production of a lysosomal enzyme called Palmitoyl protein thioesterase 1 or PPT1. A deficiency of PPT1 results in abnormal storage of proteins and lipids in neurons and other cells and impaired cellular function. The cells cannot function as they should and symptoms develop.
How is it diagnosed?
The diagnosis is usually made by enzyme (PPT1) and genetic (CLN1) tests on blood samples. Occasionally a skin biopsy may be necessary. Granular osmiophilic deposits (GRODSs) are the characteristic storage body at the electron microscope level.
Does it have any alternative name?
CLN1 disease was first described in the 1970s in Finland and is sometimes called Haltia-Santavuori Disease, Infantile neuronal ceroid lipofuscinoses, or INCL.
How does the disease progress?
Classical CLN1 disease, infantile
Babies are healthy and develop normally for the first few months of life. Towards the end of the first year, developmental progress starts to slow down. Infants may have difficulty sleeping through the night and may become more restless and irritable during the day. Some infants develop repetitive hand movements and fiddling. They often become floppy and developmental skills such as walking, standing and speech are lost.
Children become less able and increasingly dependent during the toddler years. By the age of 2 years, most will have epileptic seizures and jerks. Vision gets worse until they are no longer able to see. From about the age of three years, children are completely dependent, unable to play, feed themselves, sit independently or communicate. They may need a feeding tube and their arms and legs usually become stiff. Some children get frequent chest infections. Most affected children die in early to mid-childhood.
CLN1 disease, juvenile onset
Some children with CLN1 abnormalities develop the disease after infancy—around age 5 or 6—and have slower disease progression. Affected children may live into their teenage years. Others may not develop symptoms until adolescence and may live into adulthood. CLN1 disease, variant late infantile and adult types. A wide variety of age at symptom onset and disease progression is seen with mutations in CLN1.
Scientific Posters for CLN1
A New and Effective Target for Infantile Batten Disease
Shyng, Nelvagal, Dearborn, Cooper, & Sands
Gene Therapy for Infantile NCL
Gray & Rozenberg
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