CLN6 Disease

Variant late-infantile onset and adult onset

What is the cause?
This disease is caused by problems with lysosomal protein called CLN6, whose function is unknown. The CLN6 gene is located on chromosome 15.

What is the cause?
The gene CLN6, located on chromosome 15, directs the production of the protein CLN6, also called linclin. The protein is found in the membranes of the cell (most predominantly in a structure called the endoplasmic reticulum). Its function has not been identified.

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 CLN6 gene. A blood or saliva sample will be taken to extract DNA from the cells for the test.

Does it have any alternative names?
CLN6 disease, variant late-infantile was one of the first variant types of Neuronal Ceroid Lipofuscinosis (NCLs) to be identified and was originally termed early Juvenile Batten disease.

How does the disease progress?
Genotype/phenotype correlations

CLN6 disease, Variant Late-Infantile

Symptoms vary among children, but typically start after the first few years of life and include developmental delay, changes in behavior, and seizures. Children eventually lose skills for walking, playing, and speech. The also develop myoclonic jerks, problems sleeping, and vision loss. Most children with CNL6 die during late childhood or in their early teenage years.

CLN6, Adult Onset

Also known as Kufs’ disease Type A, this form of CLN6 disease shows signs in early adulthood that include epilepsy, inability to control muscles in the arms and legs (resulting in a lack of balance or coordination, or problems with walking), and slow but progressive cognitive decline.


CLN6 posters from a recent BDSRA Family Conference Scientific Poster Session

Mole Laboratory: Variant Late Infantile Batten Disease – Holthaus, Mole, Smith, & Ali

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

What Next?

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