CLN5 Disease

Variant Late Infantile

What is the cause?
This disease is caused by problems with lysosomal protein called CLN5, whose function is unknown. The CLN5 gene is located on chromosome 13.

How is it diagnosed?
The diagnosis is usually made by histological and genetic tests on blood samples. A skin biopsy may be necessary and the abnormal storage material takes on a mixed appearance with granular osmiophilic deposits (GRODS), curvilinear bodies (CVB), rectilinear profiles (RLP), and/or fingerprint profiles (FPP). The appearance of the storage material can guide the genetic diagnostic tests in some cases.

Genetic testing is recommended to look for the exact mutation or mistake in the CLN5 gene. A blood or saliva sample will be taken to extract DNA from the cells for the test.

Does it have any alternative name?
CLN5 disease, variant late-infantile may also be referred to as variant late-infantile CLN5 disease. It has previously been described as Finnish, Turkish, Indian, or Mediterranean Variant NCL, alongside Variant Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL); though was more commonly known as Variant Late-Infantile Batten Disease.

How does the disease progress?
Genotype/phenotype correlations

CLN5 disease, Variant Late-Infantile

Children progress normally for the first few years of life before they start losing skills and develop behavior problems. Seizures and myoclonic jerks begin usually between ages 6 and 13. Vision deteriorates and is eventually lost. Children have learning disabilities and problems with concentration and memory. Some may need a feeding tube. Most children with CLN5 live into their late childhood or teenage years.

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CLN5 posters from a recent BDSRA Family Conference Scientific Poster Session

Batten Animal Research Network (BARN): Varient Infantile Batten Disease – Palmer

Neurogenetics Lab: The CLN5 (aka CLN9) and CLN8 proteins as Ceramide Synthases or Their Modulators – Boustany, Haddad, Khoury, Daoud, Mousallem, & Alzate

What Next?

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