Batten Disease


The average patient with a rare disease visits 8 physicians and receives 2 to 3 misdiagnoses before being correctly diagnosed. On average, this takes 7.6 years.12 In rare and currently incurable disease such as juvenile Batten, the lack of a diagnosis or misdiagnoses can increase family stress, is time-consuming, expensive, can result in mistreatment, and can prevent access to family support, education and other services.SymptomsMost children with juvenile Batten disease experience the following symptoms in the following and sometimes overlapping order. However, each child is different so the exact onset and severity of symptoms cannot be predicted.1,4,6,9

  • Blindness or vision problems in previously healthy children between 5 and 10 years old,
  • Subtle to more pronounced personality and behavioral changes beginning at age 6,
  • Seizures usually begin about 8 years old but can develop at any time during the disease,
  • Intellectual decline seen as the inability to keep up with classmates,
  • Echolalia (repetitive speech). For example, if a parent says, “It’s time for a bath,” the child may repeat, “for a bath” without recognising it is happening,
  • Dementia, Psychosis and sometimes hallucinations,
  • Motor problems – coordination, ataxia, Parkinsonism,
  • Loss of speech,
  • Potential cardiac involvement in the late teens to early 20s,
  • Premature death in the late teens to early 20s.

Diagnostic Tests*

The following tests are often used in combination to diagnose juvenile and other forms of Batten disease:

Flourescent deposits:

The accumulation of autoflourescent cored lipofuscin deposits throughout the body is a hallmark sign of juvenile Batten disease. These deposits can sometimes be detected by visually examining the back of the eye. Over time, these deposits appear more pronounced, the thickness of their retina is reduced, and opthamologists see circular bands of different shades of pink and orange at the optic nerve and retina in the back of the eye. Doctors call this a “bull’s eye.”4

Visual Evoked Potentials and Electroretinograms:

These are recordings of abnormal electrical signals in the visual processing center of the brain.10

Blood tests:

Abnormal or vacuolated lymphocytes (white blood cells) are found in metabolic disorders such as juvenile Batten disease.7,9

Urine tests:

These tests can detect the presence of elevated levels of long chain, mostly unsaturated organic compounds, called dolichols. Dolichols can be found in the urine of many patients with Batten and other metabolic diseases.7

Skin or tissue sampling

The accumulation of ceroid lipofuscin deposits throughout the body is a hallmark sign of Lysosomal Storage Diseases. These deposits can be detected by viewing skin cells under a microscope and in some cases, by visually examining the back of the eye. In general, these deposits resemble fingerprints.6,7  (photo courtesy of Michela Palmieri 2013)

Electroencephalogram (EEG):

An EEG records electrical activity in the brain through electrode patches placed on the scalp. Physicians use painless and noninvasive EEGs to look for telltale signs of seizures typical of juvenile Batten disease.3,10

Brain scans:

Imaging can help doctors look for changes in the brain’s appearance. Two commonly used imaging techniques are computed tomography, or CT, and magnetic resonance imaging, or MRI. Both are sophisticated technologies that may be able to detect that certain brain areas are shrinking in children with juvenile Batten disease.11,13

Measurement of enzyme activity:

In several NCLs such as the Infantile (CLN1) and Late Infantile (CLN2), certain enzymes are greatly reduced or totally absent. Measuring the level of these enzymes in white blood or skin cells can separate juvenile (CLN3) Batten disease from enzyme-deficient NCLs.9

*DNA analysis:

Screening one’s DNA blueprint obtained from blood, saliva or skin can find mistakes in the CLN3 gene responsible for juvenile Batten disease.2,5,8

*There can often be difficulty seeing the signs described above. For example, the interior surface of the eye can appear normal early in the disease when autoflourescent deposits are very small. Vacuolated lymphocytes and dolichols may be present at levels too low to detect in blood or urine. The only definitive diagnosis for genetic diseases like juvenile Batten disease is a DNA test.2,5,8


  1. Aberg L, Liewendahl K, Nikkinen P, et al. Decreased striatal dopamine transporter density in JNCL in patients with parkinsonian symptoms. Neurology. 2000;54: 1069-74.
  2. Bell CJ, Dinwiddie DL, Miller NA, et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med. 2011 Jan 12;3(65):65ra4.
  3. Binelli S, Canafoglia L, Panzica F, et al. S. Electroencephalographic features in a series of patients with neuronal ceroid lipofuscinosis. Neurol Sci. 2000;21:S83-87.
  4. Bozorg S, Ramirez-Montealegre D, Chung M, et al. Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye. Surv Ophthalmol. 2009 Jul-Aug;54(4):463-71.
  5. Cotman SL, Karaa A, Staropoli JF, et al. Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum. Curr Neurol Neurosci Rep. 2013 Aug;13(8):366
  6. Goebel HH and Wisniewski KE. Current state of clinical and morphological features in human NCL. Brain Pathol. 2004 Jan;14(1):61-9.
  7. Kimura S and Goebel HH. Light and Electron Microscopic Study of Juvenile Ceroid-Lipofuscinosis Lymphocytes. Pediatr Neurol. 1988;4(3):148-152.
  8. Kingsmore SF, Dinwiddie DL, Miller NA, et al. Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing. Expert Rev Mol Diagn. 2011 Nov;11(8):855-68.
  9. Kohlschütter A, Williams RE, Goebel HH, et al. The Neuronal Ceroid Lipofuscinoses (Batten Disease). 2nd Oxford University Press; c2011. Chapter 3, NCL Diagnosis and Algorithms; p. 24-34.
  10. LarsenA, Sainio K, Aberg, L. et al. Electroencephalography in juvenile neuronal ceroid lipofuscinosis: visual and quantitative analysis. Eur J Paediatric Neur. 2001;3(Suppl. A): 179-183.
  11. Rinne JO, Ruottinen HM, Nagren K, et al. Positron emission tomography shows reduced striatal dopamine D1 but not D2 receptors in juvenile neuronal ceroid lipofuscinosis. Neuropediatrics. 2002;33:138-141.
  12. Shire HGT. Rare Disease Impact Report [Internet]. 2013 Apr. Available from: http://www.rarediseaseimpact.com.
  13. Van der Knapp MS, Valk J, Barkhof F. Magnetic Resonance of Myelination and Myelination Disorders. Heidelberge: SpringerLink; c2005. Chapter 15, The Neuronal Ceroid Lipofuscinoses; p.137-146.

Source: https://beyondbatten.org/