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Familial encephalopathy with neuroserpin inclusion bodies

(also known as FENIB)
Reviewed July 2007

What is FENIB?

Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a progressive disorder of the nervous system that is characterized by a loss of intellectual functioning (dementia) and seizures. At first, affected individuals may have difficulty sustaining attention and concentrating. Their judgment, insight, and memory become impaired as the condition progresses. Over time, they lose the ability to perform the activities of daily living, and most people with this condition eventually require comprehensive care.

The signs and symptoms of familial encephalopathy with neuroserpin inclusion bodies vary in their severity and age of onset. In severe cases, the condition causes seizures and episodes of sudden, involuntary muscle jerking or twitching (myoclonus) in addition to dementia. These signs can appear as early as a person's teens. Less severe cases are characterized by a progressive decline in intellectual functioning beginning in a person's forties or fifties.

How common is FENIB?

This condition appears to be rare; individuals from only a few affected families have been reported worldwide.

What genes are related to FENIB?

Mutations in the SERPINI1 gene cause familial encephalopathy with neuroserpin inclusion bodies.

The SERPINI1 gene provides instructions for making a protein called neuroserpin. This protein is found in nerve cells, where it plays a role in the development and function of the nervous system. Neuroserpin helps control the growth of nerve cells and their connections with one another, which suggests that this protein may be important for learning and memory.

Mutations in the SERPINI1 gene result in the production of an abnormally shaped, unstable version of neuroserpin. Abnormal neuroserpin proteins can attach to one another and form clumps (called neuroserpin inclusion bodies or Collins bodies) within nerve cells. These clumps disrupt the cells' normal functioning and ultimately lead to cell death. Progressive dementia results from this gradual loss of nerve cells in certain parts of the brain. Researchers believe that a buildup of related, potentially toxic substances in nerve cells may also contribute to the signs and symptoms of this condition.

How do people inherit FENIB?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person has a parent with the condition.

Where can I find information about treatment for FENIB?

You may find information on treatment or management of FENIB or some of its symptoms in the links below, particularly the links for MedlinePlus Encyclopedia, Educational resources, and Patient support.

Where can I find additional information about FENIB?

You may find the following resources about FENIB helpful. These materials are written for the general public.

  • MedlinePlus - Health information
    • Encyclopedia: Dementia (http://www.nlm.nih.gov/medlineplus/ency/article/000739.htm)
    • Encyclopedia: Seizures (http://www.nlm.nih.gov/medlineplus/ency/article/003200.htm)
    • Health Topic: Degenerative Nerve Diseases (http://www.nlm.nih.gov/medlineplus/degenerativenervediseases.html)
    • Health Topic: Dementia (http://www.nlm.nih.gov/medlineplus/dementia.html)
  • Additional NIH Resources - National Institutes of Health
    National Institute of Neurological Disorders and Stroke: Encephalopathy Information Page (http://www.ninds.nih.gov/disorders/encephalopathy/encephalopathy.htm)
  • Educational resources - Information pages
    • Journal of the American Medical Association: Patient Page on Dementia (http://www.medem.com/medlb/article_detaillb.cfm?article_ID=ZZZQC5AHB0E&sub_cat=48)
    • Merck Manual of Medical Information, Second Home Edition (http://www.merck.com/mmhe/sec06/ch083/ch083c.html)
    • National Organization for Rare Disorders: Research study on familial encephalopathy with neuroserpin inclusion bodies (http://www.rarediseases.org/nord/research/fenib)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=85110)
  • Patient support - For patients and families
    • Alzheimer's Association (http://www.alz.org/)
    • Epilepsy Foundation (http://www.epilepsyfoundation.org/)
    • Family Caregiver Alliance (http://www.caregiver.org/caregiver/jsp/content_node.jsp?nodeid=569)
    • Family Village: Epilepsy (http://www.familyvillage.wisc.edu/lib_epil.htm)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/search/condition=%22familial+encephalopathy+with+neuroserpin+inclusion+bodies%22+OR+%22Heredodegenerative+Disorders%2C+Nervous+System%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=((familial+encephalopathy+with+neuroserpin+inclusion+bodies[TIAB])+OR+(fenib[TIAB]))+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=3600+Days)
  • OMIM - Genetic disorder catalog (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604218)

What other names do people use for FENIB?

  • familial dementia with neuroserpin inclusion bodies

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about FENIB?

  • See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
  • Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
  • Submit your question to Ask the Geneticist (http://www.askthegen.org/).

What glossary definitions help with understanding FENIB?

autosomal ; autosomal dominant ; cell ; dementia ; encephalopathy ; ER ; familial ; gene ; inclusion bodies ; involuntary ; mutation ; myoclonus ; nerve cell ; nervous system ; protein ; seizure ; sign ; symptom ; toxic

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References
  • Bradshaw CB, Davis RL, Shrimpton AE, Holohan PD, Rea CB, Fieglin D, Kent P, Collins GH. Cognitive deficits associated with a recently reported familial neurodegenerative disease: familial encephalopathy with neuroserpin inclusion bodies. Arch Neurol. 2001 Sep;58(9):1429-34. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=11559315)
  • Davis RL, Holohan PD, Shrimpton AE, Tatum AH, Daucher J, Collins GH, Todd R, Bradshaw C, Kent P, Feiglin D, Rosenbaum A, Yerby MS, Shaw CM, Lacbawan F, Lawrence DA. Familial encephalopathy with neuroserpin inclusion bodies. Am J Pathol. 1999 Dec;155(6):1901-13. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=10595921)
  • Davis RL, Shrimpton AE, Carrell RW, Lomas DA, Gerhard L, Baumann B, Lawrence DA, Yepes M, Kim TS, Ghetti B, Piccardo P, Takao M, Lacbawan F, Muenke M, Sifers RN, Bradshaw CB, Kent PF, Collins GH, Larocca D, Holohan PD. Association between conformational mutations in neuroserpin and onset and severity of dementia. Lancet. 2002 Jun 29;359(9325):2242-7. Erratum in: Lancet 2002 Oct 5;360(9339):1102. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12103288)
  • Davis RL, Shrimpton AE, Holohan PD, Bradshaw C, Feiglin D, Collins GH, Sonderegger P, Kinter J, Becker LM, Lacbawan F, Krasnewich D, Muenke M, Lawrence DA, Yerby MS, Shaw CM, Gooptu B, Elliott PR, Finch JT, Carrell RW, Lomas DA. Familial dementia caused by polymerization of mutant neuroserpin. Nature. 1999 Sep 23;401(6751):376-9. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=10517635)
  • Galliciotti G, Sonderegger P. Neuroserpin. Front Biosci. 2006 Jan 1;11:33-45. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16146712)
  • Yepes M, Lawrence DA. Neuroserpin: a selective inhibitor of tissue-type plasminogen activator in the central nervous system. Thromb Haemost. 2004 Mar;91(3):457-64. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=14983220)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: July 2007
Published: January 23, 2009