Neuronal ceroid-lipofuscinosis type 3 (NCL3)


Neuronal ceroid-lipofuscinosis type 3 (NCL3; MIM #204200) is a rare autosomal recessive neurodegenerative disorder caused by mutations in the CLN3 gene. NCL3 is one of at least eight genetically distinct diseases associated with the NCL disease spectrum. NCL3 is generally referred to as juvenile NCL (JNCL) due typical onset of symptoms between the ages of 4 and 7 years. A rare variant form of JNCL (vJNCL) has been associated with mutations in the CLN1 gene (usually associated with the infantile form of the disease). NCL3 is typically characterised by normal development until the onset of visual failure due to retinal degeneration between 4 and 7 yrs. Progression of visual loss is usually rapid. Other clinical features include seizures and psychomotor deterioration; prognosis is poor. The differential diagnosis of NCL3 from the other NCL types is based on age of onset, clinical phenotype and ultra structural characterisation of the storage material. NCL3 is characterised by the accumulation of auto fluorescent lipopigment with a fingerprint profile in neurones and other cell types and the presence of vacuolated lymphocytes on a blood smear.

Also known as

Juvenile Batten disease; Vogt-Spielmeyer disease; Spielmeyer-Sjogren disease

Request a test

When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.

Additional information

Clinical and histopathological review of the affected patient is recommended to indicate a diagnosis of NCL3. Testing for the common 1.02kb deletion can then be requested; please supply details of biochemical and histopathological testing undertaken, clinical details and any relevant pedigree. If the necessary patient samples are unavailable genetic testing can be undertaken in the parents of an affected child. The CLN3 gene (16p12) consists of 15 exons spanning 15kb of genomic DNA. A 1.02kb deletion (introns 6-8) is reported to account for ~69% of JNCL alleles (~85% in Finnish population). Other disease causing mutations are family specific and found throughout the gene. Testing for the common 1.02kb deletion by three-primer PCR analysis. Mutation screening of the CLN3 gene by sequence analysis.

Sending address

Rare & Inherited Disease Laboratory
London North Genomic Laboratory Hub
Great Ormond Street Hospital for Children
Levels 4-6 Barclay House
37 Queen Square

Laboratory service


Sample requirements

1ml EDTA neonates, 5ml EDTA adults

Reference range

Not applicable

Turnaround time

10 days

Disease / group



Upon request

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Prenatals must be arranged in advance, through a Clinical Genetics department if possible.


The Genetics Laboratories provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing services.

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