The Classification and Cause of Leukodystrophies of Unknown Cause

Launched by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE (NINDS) · Nov 3, 1999

Keywords

ClinConnect Summary

Patients with leukodystrophies (LDs) of unknown etiology are a heterogeneous group but constitute the second largest group of genetic white matter diseases. The purpose of this study is to: (a) define novel homogeneous groups of patients with LDs and (b) work toward finding the cause of these disorders. In order to achieve these goals, patients with LDs of unknown cause will be analyzed clinically, neurophysiologically, biochemically and genetically. Patients would have been diagnosed as having no known leukodystrophies at outside centers. At the Clinical Center, such patients will undergo ...

Gender

ALL

Eligibility criteria

• * INCLUSION CRITERIA:
• • 1. Candidates for participation in the protocol will be patients of all ages with clinical and radiographic signs of leukodystrophy who do not have a specific etiology despite a previous comprehensive workup. The preceding investigation would have excluded the following: adrenoleukodystrophy, adrenomyeloneuropathy, metachromatic leukodystrophy, Krabbe disease, Canavan disease, a well-defined amino acid organic acid disorder, or a systemic mitochondrial cytopathy.
• • 2. First -degree relatives of patients with leukodystrophies of unknown etiology (father, mother, siblings, or sons and daughters of the patients)
• EXCLUSION CRITERIA:
• • 1. Refusal to sign the protocol consent form.
• • 2. Candidates who are unable to travel to the National Institutes of Health Clinical Center.