The purpose of this study is to: 1. define novel homogeneous groups of patients with LDs and 2. work toward finding the cause of these disorders.
Patients with leukodystrophies (LDs) of unknown etiology are a heterogeneous group but constitute the second largest group of genetic white matter diseases. In order to find the cause of leukodystrophies, 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 Baylor University Medical Center, such patients will undergo a series of neuropsychological, blood, urine, spinal fluid, radiological, and peripheral tissue pathological tests. Some of these tests will be part of a standard battery while others will be tailored to individual patients. Patients will be followed yearly or as necessary. Patients will be screened for mutations in genes coding for structural myelin proteins. In some patients in whom all tests yielded no information regarding the etiology of their disease, and in whom there is evidence to suggest involvement of the peripheral nervous system, a sural nerve biopsy will be considered. Sural nerve biopsy tissue will be evaluated using a novel combination of approaches including detailed pathological, immunohistochemical, and biochemical analysis of myelin proteins and lipids. Schwann cell biology and expression of myelin genes in the brain will also be investigated in situ. It is hoped that the present study will help clarify the nosology of the leukodystrophies and significantly advance our understanding of the pathogenesis of these diseases.
Study Type
OBSERVATIONAL
Enrollment
10
Baylor University Medical Center
Dallas, Texas, United States
Neuropsychological evaluation to measure baseline cognitive function and detect signs of dementia over time
Neuropsychological status is evaluated at Baseline and no less than once every year for the duration of the study to assess for any deterioration in function
Time frame: Every 52 weeks up to 5 years
Evoked potentials to assess involvement of different areas of brain over time
Evoked potentials are evaluated at Baseline and no less than once every year for the duration of the study to assess for changes in function
Time frame: Every 52 weeks up to 5 years
MRI of the brain to assess involvement of different areas of the brain over time
Changes in the brain are assessed at Baseline and no less than once every year for the duration of the study to assess for changes
Time frame: Every 52 weeks
Electroencephalogram to assess involvement of different areas of the brain over time
EEG is assessed at Baseline and no less than once a year for the duration of the study to assess for changes in function
Time frame: Every 52 weeks up to 5 years
Electromyelogram to assess for changes in muscle function over time
EMG is assessed at Baseline and no less than once a year for the duration of the study to assess for changes in function
Time frame: Every 52 weeks up to 5 years
Nerve Conduction study to assess abnormalities in affected nerves
Nerve conduction is assessed at Baseline and no less than once a year for the duration of the study to assess for changes in function
Time frame: Every 52 weeks up to 5 years
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Skin biopsy for to look for evidence of storage disease
Time frame: Baseline
DNA Studies to search for mutations in genes of structural myelin proteins or genes that control myelin production
Time frame: Baseline
Spinal Tap to look for diagnostic markers of leukodystrophy
Time frame: Baseline
Nerve Biopsy to look for pathological abnormalities in affected nerves
Time frame: Baseline
Neuro-ophthalmological exam to assess for abnormalities in the eye
Eyes are assessed at Baseline and no less than once a year for the duration of the study to assess for changes in function
Time frame: Every 52 weeks up to 5 years