Clinical and Molecular Manifestations of Inherited Neurological Disorders

Study Purpose:

This study is designed to learn more about the natural history of inherited neurological disorders and the role of heredity in their development. 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.


Familial ALS

Study Type:

Observational Study

Study Category:


Study Status:



Not Applicable

Study Chair(s)/Principal Investigator(s):

Principle Investigator (National Institute of Neurological Disorders and Stroke) ID (11 digit #):


Neals Affiliated?


Coordinating Center Contact Information

National Institutes of Health Clinical Center
Alice B Schindler / .(JavaScript must be enabled to view this email address) / 301-496-8969
Christopher Grunseich, M.D. / .(JavaScript must be enabled to view this email address) / 301-402-5423
9000 Rockville Pike
Bethesda, Maryland 20892 United States

Full Study Summary:

Individuals and their families affected by neurological disorders with a potential genetic basis will be the focus of this screening and repository protocol. The goals of the protocol will be to contribute to both the clinical and molecular understanding of inherited neurological disorders. Clinical issues to be addressed will include disease manifestations, natural history, management and psychological/behavioral impact of disease. Patients with diseases of known molecular basis will be genotyped in order to investigate phenotype-genotype correlation. Patients with disease of unknown or incomplete genetic characterization will be studied with hopes of contributing to the identification of specific genes responsible for disease. It is anticipated that additional protocols will be generated from preliminary data gathered in this study.

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.

Study Sponsor:

National Institute of Neurological Disorders and Stroke

Participant Duration:

Estimated Enrollment:


Estimated Study Start Date:


Estimated Study Completion Date:

Posting Last Modified Date:


Date Study Added to

  • Eligibility Criteria


    Female, Male

    Minimum Age:


    Maximum Age:


    Time since Symptom Onset:


    Time since Diagnosis:


    Can participants use Riluzole?


    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.

    For the off-site study, the general health and well being of potential patients must be sufficient to allow for travel to the neurology clinic in Bamako, blood drawing, and as indicated, skin, nerve or muscle biopsy, EEG, CT scan, lumbar puncture, and cardiac evaluations.

    For the homozygosity study, subjects will have to be healthy and not affected by neurological disease. A buccal sample only will be taken, and those from the Fulani, Sarakole, and Bambara population subsets will not have to travel to the clinic in Bamako. For the urban population subset, patients from another clinic, other than the neurology clinic, will give a buccal sample.


    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.

  • Site Contact Information

    National Institutes of Health Clinical Center
    Patient Recruitment and Public Liaison Office / .(JavaScript must be enabled to view this email address) / 800-411-1222
    9000 Rockville Pike
    Bethesda, Maryland 20892
    United States