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Clinical and Molecular Manifestations of Inherited Neurological Disorders

This study is currently Recruiting

December 2010 By National Institutes of Health Clinical Center (CC)

First Recieved on February 11, 2000

Last Updated on January 20, 2011

Sponsor: National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by: National Institutes of Health Clinical Center (CC)
Identifier: NCT00004568


This study is designed to learn more about the natural history of inherited neurological disorders and the role of heredity in their development. It will examine the genetics, symptoms, disease progression, treatment, and psychological and behavioral impact of diseases in the following categories: hereditary peripheral neuropathies; hereditary myopathies; muscular dystrophies; hereditary motor neuron disorders; mitochondrial myopathies; ataxias; hereditary neurocognitive disorders; inherited neurological disorders without known diagnosis; and others. Many of these diseases, which affect the brain, spinal cord, muscles, and nerves, are rare and poorly understood. Children and adults of all ages with various inherited neurological disorders may be eligible for this study. Participants will undergo a detailed medical and family history, and a family tree will be drawn. They will also have a physical and neurological examination that may include blood test and urine tests, an EEG (brain wave recordings), psychological tests, and speech and language and rehabilitation evaluations. A blood sample or skin biopsy may be taken for genetic testing. Depending on the individual patient's symptoms, imaging tests such as X-rays, CT or MRI scans and muscle and nerve testing may also be done. Information from this study may provide a better understanding of the genetic underpinnings of these disorders, contributing to improved diagnosis, treatment, and genetic counseling, and perhaps leading to additional studies in these areas. ...

Study Type: Observational
Study Design: N/A


Ages Eligible for Study:N/A
Genders Eligible for Study:Both
Accepts Healthy Volunteers:Accepts Healthy Volunteers

- INCLUSION CRITERIA: Patients of all ages will be considered for the study. The general health and well being of each potential participant must be sufficient to allow for travel to the NIH, blood drawing, and as indicated, skin or muscle biopsy, pulmonary and cardiac evaluations, physical therapy assessments, and magnetic resonance imaging, studies if necessary under monitored sedation. In particular, families with more than one affected relative or families with known consanguinity will be sought, as the incidence of a recessive disorder is increased in such a setting. EXCLUSION CRITERIA: Subjects without a suspected inherited neurological disorder will be excluded from this study. For positional cloning and the homozygosity study in Mali, samples from healthy controls will be requested.



  • National Institutes of Health Clinical Center, 9000 Rockville Pike

    Bethesda, Maryland 20892 United States

  • Point G Hospital

    Bamako, Mali

Conditions related to this trial:

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