Protocol Number: 00-HG-0191

Title:

Clinical, Molecular and Biochemical Characterization of Familial Encephalopathy with Neuroserpin Inclusion Bodies

Number:

00-HG-0191

Summary:

The purpose of this study is to learn more about the medical problems and the genetic factors involved in a recently defined form of inherited dementia called "familial dementia with neuroserpin inclusion bodies (FDNIB)." Abnormal substances in nerve cells of patients with this disease affect brain and nervous system function, causing confusion, memory decline and impaired cognition (thinking ability). Patients also develop movement disorders and, possibly, seizures. Symptoms begin in midlife, between 45 and 55 years of age.

Patients with FDNIB and family members 18 years of age or older at risk for the disease may be eligible for this 3-year study.

Participants will have a medical and family history and review of medical records; interview with a medical geneticist (specialist in genetics); physical, neurological and psychiatric examinations; and the following tests and procedures:

1. Blood tests to assess general health

2. Chest and skull X-rays

3. Electrocardiogram (EKG)-record of the electrical activity of the heart using electrodes placed on the chest

4. Electroencephalogram (EEG)-record of the electrical activity of the brain using electrodes placed on the head

5. Ultrasound of the abdomen-imaging of abdominal organs using sound waves

6. Brain magnetic resonance imaging (MRI)-imaging of the brain using a strong magnetic field and radio waves

7. Hearing evaluation

8. Assessment of performance of daily living activities

9. Single photon emission computed tomography (SPECT)-imaging of brain metabolism and blood flow using a radioactive substance injected into a vein

The evaluation will be done over a 3- to 4-day period. At their completion, participants will meet with a physician and a genetics counselor to discuss the clinically significant findings. Participants may be asked to return for follow-up evaluations every 6 months to a year (depending on the individual's condition) for 3 years.

Sponsoring Institute:

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Clinical hold/Recruitment or enrollment suspended

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria: This study is not currently recruiting new subjects. If you have questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.

Special Instructions:

Currently Not Provided

Keyword(s):

FENIB

Presenile Dementia

Progressive Myoclonic Epilepsy

Recruitment Keyword(s):

Dementia

Early Onset Progressive Dementia

Familial Presenile Dementia

FDNIB

Condition(s):

Familial Dementia with Neuroserpin Inclusion Bodies

Nervous System Heredodegenerative Disorder

Investigational Drug(s):

None

Investigational Device(s):

None

Interventions:

None

Supporting Site:

National Human Genome Research Institute

Contact(s):

This study is not currently recruiting new subjects. If you have questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.

Citation(s):

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.

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.

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.

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department of Networks and Applications, CC.

Search The Studies | Help | Questions |
Clinical Center Home | NIH Home

National Institutes of Health Clinical Center
Bethesda, Maryland 20892. Last update: 09/16/2008