Rare Pulmonology News

Disease Profile

Wernicke-Korsakoff syndrome

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

no.svg

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

no.svg

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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Categories

Nervous System Diseases

Summary

Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the "acute" phase and Korsakoff's syndrome represents the "chronic" phase.[1] However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait (ataxia), and abnormal eye movements (nystagmus). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system. Wernicke-Korsakoff syndrome mainly results from chronic alcohol use, but also from dietary deficiencies, prolonged vomiting, eating disorders, systemic diseases (cancer, AIDS, infections), bariatric surgery, transplants, or the effects of chemotherapy.[1][2][3] Studies indicate that there may be some genetic predisposition for the disease. Treatment involves supplementing the diet with thiamine. Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic complications. In cases where the diagnosis is not confirmed, patients should still be treated while additional evaluations are completed.[2][3]

 

Symptoms

Although these conditions may appear to be two different disorders, they are generally considered to be different stages of Wernicke-Korsakoff syndrome. Wernicke's encephalopathy represents the "acute" phase and Korsakoff's amnesic syndrome represents the "chronic" phase.[1] The symptoms of Wernicke encephalopathy (WE) commonly include:[1][2][4]  

Other symptoms may include:[1][3][4] 

 Korsakoff syndrome (KS) is seen most frequently in people who abuse alcohol after they experience an episode of WE. Most patients with KS show typical WE lesions in the brain.[5] The main features of Korsakoff's syndrome are impairments in acquiring new information or establishing new memories, and in retrieving previous memories.[1][4] 

The symptoms include:[1][2][3][4]

  • Loss of memory and inability to form new memories
  • Making of stories (confabulation)
  • Seeing or hearing things that are not really there (hallucinations)
  • Disorientation
  • Vision impairment. 

Attention and social behavior are relatively preserved. Affected subjects are able to carry on a socially appropriate conversation that may seem normal to an unsuspecting spectator. Patients with KS are as a rule unaware of their illness. Some patients may have severe cognitive function and global dementia.[5]

In people with memory impairment, lesions in an area of the brain known as the anterior thalamus are commonly found. The shrinking of the mamillary bodies is also specific for WE, so when damaged or very small mamillary bodies are found in a demented patient, it is thought that the dementia may be due to alcohol abuse and malnutrition.[5]

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
Percent of people who have these symptoms is not available through HPO
Ataxia
0001251
Autosomal recessive inheritance
0000007
Coma
0001259
Delirium
0031258
Horizontal nystagmus
0000666
Memory impairment
Forgetfulness
Memory loss
Memory problems
Poor memory

[ more ]

0002354
Ophthalmoplegia
Eye muscle paralysis
0000602
Polyneuropathy
Peripheral nerve disease
0001271
Psychosis
0000709
Ptosis
Drooping upper eyelid
0000508

Cause

WernickeKorsakoff is caused by thiamine deficiency. Thiamine is a cofactor for several key enzymes important in energy metabolism. Thiamine requirements depend on metabolic rate, with the greatest need during periods of high metabolic demand and high glucose intake.[3][4]

Because of the role of thiamine in cerebral energy utilization, it has been proposed that its deficiency initiates neuronal injury by inhibiting metabolism in brain regions with high metabolic requirements and high thiamine turnover.[2] 

Thiamine deficiency in alcohol abusers results from a combination of inadequate dietary intake, reduced gastrointestinal absorption, decreased hepatic storage, and impaired utilization.[4]

Some studies indicate that there may be a genetic predisposition for the disease. Variants in the high affinity thiamine transporter gene have also been implicated. The SLC19A2 gene provides instructions for making a protein called thiamine transporter 1. This protein is located on the surface of cells, where it works to bring vitamin B1 (thiamine) into cells.[3]

Treatment

The goals of treatment are to control symptoms as much as possible and to prevent progression of the disorder. Some people may need to be hospitalized initially to control the symptoms.[4] Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic problems. For this reason, even if the diagnosis is not confirmed, patients should be treated while additional evaluations are completed.[2][3]

Treatment involves replacement of thiamine and providing proper nutrition and hydration.[1][3] Intravenous thiamine is the treatment of choice. After the initial dose, daily doses of thiamine are usually recommended. Supplementation of electrolytes, particularly magnesium and potassium (often low in people with alcoholism), may be required in addition to thiamine. In those who are chronically malnourished, the remainder of the B vitamins should also be supplemented. Supplementation can be tapered as the patient resumes normal intake and shows improvement.[3]

Because long-term alcohol use is the most common cause for Wernicke-Korsakoff syndrome, avoiding alcohol provides the best chance for recovery. Referral to an alcohol recovery program should be part of the treatment regimen.[3]

Due to difficulties with movement, patients should be provided with assistance when walking during the initial phase of treatment. Patients may require physical therapy to assist with movement. Walking difficulties may be permanent, depending on the severity at initial presentation and the timeliness of therapy.[3]

Patients with Korsakoff syndrome rarely recover. Many patients require at least some form of supervision and social support, either at home or in a chronic care facility.[5]

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

    Organizations Providing General Support

      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.
      • 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

        • 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.
        • 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 Wernicke-Korsakoff syndrome. Click on the link to view a sample search on this topic.

          References

          1. NINDS Wernicke-Korsakoff Syndrome Information Page. National Institute of Neurological Disorders and Stroke (NINDS). 2016; https://www.ninds.nih.gov/Disorders/All-Disorders/Wernicke-Korsakoff-Syndrome-Information-Page.
          2. So YT. Wernicke encephalopathy. UpToDate. May 05, 2015; https://www.uptodate.com/contents/wernicke-encephalopathy.
          3. Xiong GL. Wernicke-Korsakoff Syndrome. Medscape Reference. April 18, 2016; https://emedicine.medscape.com/article/288379-overview#a7.
          4. Dugdale DC. Wernicke-Korsakoff syndrome. MedlinePlus. February, 2014; https://www.nlm.nih.gov/medlineplus/ency/article/000771.htm.
          5. Charness ME. Overview of the chronic neurologic complications of alcohol. UpToDate. May 17, 2012; https://www.uptodate.com/contents/overview-of-the-chronic-neurologic-complications-of-alcohol.

          Rare Pulmonology News