Rare Neurology News

Disease Profile

Neuronal ceroid lipofuscinosis 3

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Childhood

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ICD-10

E75.4

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Juvenile neuronal ceroid lipofuscinosis; Vogt Spielmeyer disease; Spielmeyer Sjogren disease;

Categories

Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases

Summary

Neuronal ceroid lipofuscinosis 3 (CLN3-NCL) is a rare condition that affects the nervous system. Signs and symptoms generally develop between age 4 and 8 years, although later onset cases have been reported. Affected people may experience rapidly progressive vision loss, developmental regression (loss of acquired milestones), cognitive decline, heart problems, seizures, speech disturbances, behavioral problems (including aggression), and movement abnormalities. Life expectancy generally ranges from the late teens to the 30's. CLN3-NCL is caused by changes (mutations) in the CLN3 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.[1][2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal electroretinogram
0000512
Abnormal pyramidal sign
0007256
Abnormality of extrapyramidal motor function
0002071
Abnormality of visual evoked potentials
0000649
Ataxia
0001251
Behavioral abnormality
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances

[ more ]

0000708
Bilateral tonic-clonic seizure
Grand mal seizures
0002069
Blindness
0000618
Dementia
Dementia, progressive
Progressive dementia

[ more ]

0000726
EEG abnormality
0002353
Focal-onset seizure
Seizure affecting one half of brain
0007359
Iris hypopigmentation
Light eye color
0007730
Motor deterioration
Progressive degeneration of movement
0002333
Neurological speech impairment
Speech disorder
Speech impairment
Speech impediment

[ more ]

0002167
Retinopathy
Noninflammatory retina disease
0000488
Percent of people who have these symptoms is not available through HPO
Abnormal cerebellum morphology
Abnormality of the cerebellum
Cerebellar abnormalities
Cerebellar abnormality
Cerebellar anomaly

[ more ]

0001317
Anxiety
Excessive, persistent worry and fear
0000739
Autosomal recessive inheritance
0000007
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Cerebral atrophy
Degeneration of cerebrum
0002059
Concentric hypertrophic cardiomyopathy
0005157
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
0003205
Dysarthria
Difficulty articulating speech
0001260
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
0003208
Glaucoma
0000501
Increased extraneuronal autofluorescent lipopigment
0003463
Increased neuronal autofluorescent lipopigment
0002074
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Macular degeneration
0000608
Myoclonus
0001336
Optic atrophy
0000648
Parkinsonism
0001300
Progressive inability to walk
0002505
Progressive visual loss
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive

[ more ]

0000529
Psychomotor deterioration
0002361
Psychosis
0000709
Rod-cone dystrophy
0000510
Seizure
0001250
Undetectable electroretinogram
0000550
Vacuolated lymphocytes
0001922

Cause

Neuronal ceroid lipofuscinosis 3 (CLN3-NCL) is caused by changes (mutations) in the CLN3 gene. This gene provides instructions for making a protein whose function is unknown. However, it appears to be important for the normal function of cell structures call lysosomes.[3]

Although researchers do not completely understand how mutations in the CLN3 gene lead to the signs and symptoms of CLN3-NCL, they appear to disrupt the function of lysosomes (structures in the cell that normally digest and recycle different substances). When the lysosomes don't work properly, lipopigments (materials made of fats and proteins) build up in cells of the brain and the eye as well as in skin, muscle, and many other tissues. Researchers believe that this build up plays a key role in the development of the many features of CLN3-NCL.[3]

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • Genetics Home Reference (GHR) contains information on Neuronal ceroid lipofuscinosis 3. This website is maintained by the National Library of Medicine.
      • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Neuronal ceroid lipofuscinosis 3. Click on the link to view a sample search on this topic.

          References

          1. Mole SE, Williams RE. Neuronal Ceroid-Lipofuscinoses. GeneReviews. August 1, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1428/.
          2. Chang CH. Neuronal Ceroid Lipofuscinoses. Medscape Reference. May 4, 2017; https://emedicine.medscape.com/article/1178391-overview.
          3. Juvenile Batten disease. Genetics Home Reference. September 2013; https://ghr.nlm.nih.gov/condition/juvenile-batten-disease.

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