Clinical Trial: Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies
Study Status: Completed
Recruit Status: Completed
Study Type: Observational
Official Title: Clinical, Molecular and Biochemical Characterization of Familial Encephalopathy With Neuroserpin Inclusion Bodies
Brief 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:
- Blood tests to assess general health
- Chest and skull X-rays
- Electrocardiogram (EKG)-record of the electrical activity of the heart using electrodes placed on the chest
- Electroencephalogram (EEG)-record of the electrical activity of the brain using electrodes placed on the head
- Ultrasound of the abdomen-imaging of abdominal organs using sound waves
- Brain magnetic resonance imaging (MRI)-imaging of the brain using a strong magnetic field and radio waves
- Hearing evaluation
- Assessment of performance of daily living activities
- Single photon emission computed tomography (SPECT)-imaging
Detailed Summary: This project involves the study of a novel familial neurodegenerative disorder, familial encephalopathy with neuroserpin inclusion bodies (FENIB). This disorder, which has a characteristic clinical course of progressive dementia and neurologic involvement, was initially defined in one extended family. Neuroserpin is the gene for this disorder and a mutation is present in this large kindred and four additional families/cases. This protocol will characterize the clinical phenotype, delineate the natural history of the disorder and explore genotype/phenotype correlations in the index family and possibly in other reported cases. Families with immunohistopathologically-neuroserpin positive neuronal inclusions on autopsy/biopsy in an affected member(s), neuroserpin mutation-positive proband, or with familial presenile dementia with neurologic features consistent with the original FENIB family will be enrolled.
Sponsor: National Human Genome Research Institute (NHGRI)
Current Primary Outcome:
Original Primary Outcome:
Current Secondary Outcome:
Original Secondary Outcome:
Information By: National Institutes of Health Clinical Center (CC)
Dates:
Date Received: August 12, 2000
Date Started: August 10, 2000
Date Completion:
Last Updated: January 24, 2017
Last Verified: August 4, 2009
