Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31 in Bethesda MD

The Neurogenetics Branch (NGB) within the National Institute of Neurological Disorders and Stroke (NINDS) is conducting a study to evaluate patients with hereditary spastic paraplegia types 3A, 4 and 31. The objective of this study is to understand disease progression in these closely related forms of hereditary spastic paraplegia using validated rating scales. We also hope to develop bio- markers that could be used in future treatment trials.

Eligibility Requirements:

1. Age 7 or older
2. Genetic diagnosis of SPG3A, SPG4, or SPG31
3. Willing to travel to the NIH, located in Bethesda

Included evaluations:
1. Neurological exam
2. Blood work
3. Skin biopsy (optional)

Research contact:

Alice B. Schindler, MS, CGC
Genetic Counselor/Research Coordinator
NIH/NINDS/Neurogenetics Branch
10 Center Drive 10/5s-219
Bethesda, MD 20892-1671

Email: schindlerab@mail.nih.gov
Fax: 301-480-0056