Clinical and Molecular Manifestations of Inherited Neurological Disorders

  • participants needed
  • sponsor
    National Institute of Neurological Disorders and Stroke (NINDS)
Updated on 17 October 2022
neurological disorders
urine tests
rehabilitation program
MRI Scan
genetic counseling
spinal cord
neurological examination
muscular dystrophy
genetic testing
skin biopsy
psychological tests
neurocognitive disorders
nerve disorders
peripheral nerve disease


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; 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.


The Neurogenetics Branch (NGB) within the National Institute of Neurological Disorders and Stroke (NINDS) is conducting a study to evaluate and provide genetic diagnosis to participants with various diagnosed and undiagnosed neurological conditions.


The primary objective of this protocol is to provide a resource of participants for enrollment into new research protocols throughout the NGB and other NIH laboratories. Evaluating and diagnosing participants will allow the NGB specialists to maintain their expertise and gain additional knowledge of the course of various neurological disorders. The information obtained will allow for the evaluation and diagnosis of the studied neurological diseases. This understanding may lead to ideas for future protocols. In some cases, blood or other biologic samples (including urine, saliva, or a cheek (buccal) swab) will be obtained for future laboratory studies.


The number of participants to be enrolled will be set to 3,500 participants with neurological diseases and their unaffected relatives.


This is an observational diagnostic study of multiple neurological diseases and their pathophysiology.


No formal outcomes will be measured; however the clinical assessments of enrolled participants can be used to characterize the disease manifestations. In addition, DNA samples obtained may be used to identify and verify causative mutations as well as identify novel genes, which may help establish pathogenic mechanisms and genotype-phenotype correlations.

Condition Motor Neuron Disease, Muscular Disease, Muscular Dystrophy, Peripheral Nervous System Disease
Clinical Study IdentifierNCT00004568
SponsorNational Institute of Neurological Disorders and Stroke (NINDS)
Last Modified on17 October 2022


Yes No Not Sure

Inclusion Criteria

Participants will be eligible if they
Have either a known or suspected, inherited neurological disease, OR are an unaffected relative (first-, second-, third, or higher degree relative) of a participant with a genetic neurological disease
Have the ability to understand and sign an informed consent or have a parent/legal guardian to do so if they are minor children or a legal guardian to provide consent for adults without consent capacity
Aged 2 years and above

Exclusion Criteria

Participants will not be eligible if they
Have a systemic disease that compromises the ability to provide adequate neurologic
examination or diagnosis.An example of this would be a contagious disease that would
compromise our ability to do an adequate neurological exam
Clear my responses

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Step 1 Connect with a study center
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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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