Rare Medical News

Disease Profile

Corticobasal degeneration

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

#N/A

ICD-10

#N/A

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)

Cortical-Basal Ganglionic degeneration; Cortico-Basal Ganglionic Degeneration (CBGD); CBGD;

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

Corticobasal degeneration is characterized by the break down (degeneration) of parts of the brain, including the cerebral cortex and basal ganglia. The cerebral cortex is responsible for most of the brain's processing of information, and the basal ganglia are deep brain structures that help start and control movement. Signs and symptoms of corticobasal degeneration include poor coordination, loss of movement, rigidity, poor balance, unnatural posturing of the muscles, intellectual (cognitive) impairment, speech impairment, muscular jerks, and difficulty swallowing. These symptoms develop and worsen over time. Currently the cause of corticobasal degeneration is not known.[1] Treatment depends on the symptoms in each person. People with corticobasal degeneration usually do not survive beyond an average of 7 years after symptoms begin. Aspiration pneumonia or other complications are usually the cause of death.[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
Parkinsonism
0001300
Progressive extrapyramidal muscular rigidity
0007158
30%-79% of people have these symptoms
Akinesia
0002304
Bradykinesia
Slow movements
Slowness of movements

[ more ]

0002067
Dementia
Dementia, progressive
Progressive dementia

[ more ]

0000726
Frontal release signs
0000743
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait

[ more ]

0001288
Limb apraxia
0030217
Limb dystonia
0002451
Limb myoclonus
0045084
Oromotor apraxia
0007301
Postural instability
Balance impairment
0002172
Sensory impairment
0003474
Tremor
0001337
5%-29% of people have these symptoms
Aphasia
Difficulty finding words
Losing words
Loss of words

[ more ]

0002381
Dysphasia
0002357
Memory impairment
Forgetfulness
Memory loss
Memory problems
Poor memory

[ more ]

0002354
Speech apraxia
0011098
1%-4% of people have these symptoms
Behavioral abnormality
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances

[ more ]

0000708

Cause

The underlying cause of corticobasal degeneration (CBD) is poorly understood. However, researchers have found that a protein called tau plays a role in the development of CBD. Tau is a specific type of protein that is normally found in the brain. In CBD, abnormal levels of tau accumulate in the brain cells, eventually leading to their deterioration and causing symptoms of the condition. Exactly why this happens is unknown.[3] Tau also appears to play a role in other neurodegenerative diseases such as Alzheimer disease, progressive supranuclear palsy, and frontotemporal dementia.[3][4] There is no evidence to suggest that environmental exposure to toxic or infectious agents plays a role in causing CBD.[4]

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

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • 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 Corticobasal degeneration. Click on the link to view a sample search on this topic.

        References

        1. NINDS Corticobasal Degeneration Information Page. National Institute of Neurological Disorders and Stroke. February 6, 2015; https://www.ninds.nih.gov/Disorders/All-Disorders/Corticobasal-Degeneration-Information-Page.
        2. A M Barrett. Cortical Basal Ganglionic Degeneration. Medscape Reference. June 3, 2014; https://emedicine.medscape.com/article/1150039-overview.
        3. Lee S. Corticobasal Degeneration. National Organization for Rare Disorders (NORD). 2012; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1009/viewAbstract.
        4. Factor SA, Walls DG. Corticobasal degeneration. UpToDate. Waltham, MA: UpToDate; June 15, 2016;
        5. Corticobasal syndrome. The Association for Frontotemporal Degeneration. 2017; https://www.theaftd.org/understandingftd/disorders/corticobasal-degeneration.

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