Neurodegenerative Disorders Clinic

Neurodegenerative disorders can lead to problems in movement or memory in previously healthy adults. Some neurodegenerative disorders that affect movement or memory have common molecular pathology, with accumulation of abnormal proteins (TDP-43 and Tau) in brain cells. This family of disorders includes frontotemporal dementia (FTD), amytrophic lateral sclerosis (ALS), corticobasal syndrome (CBS), primary progressive aphasia (PPA) and progressive supranuclear palsy (PSP). In some cases, genes cause or increase the risk for developing these neurodegenerative disorders. Familial inheritance may be unrecognized because different family members may be diagnosed with different disorders. For example, within the same family, mutations in gene C90for72 can cause ALS or FTD in different family members. The clinical findings depend on the regions of the brain that degenerate. In FTD, nerve cells in the frontal and temporal lobes of the brain degenerate, causing changes in thinking, personality, and behavior. In ALS nerve cells in the motor regions of the brain and spinal cord degenerate leading to difficulty with walking, talking, or hand coordination.

The Neurodegenerative Disorders Clinic seeks patients with these disorders for research to better understand the clinical spectrum of thesese diseases. Patients will be asked to donate blood or skin tissue for studies of genetic and cellular mechanisms of degeneration. Patients will be assessed for eligiblity for current or future clinical studies of these disorders.

If you are a patient diagnosed with frontotemporal dementia, amytrophic lateral sclerosis, corticobasal syndrome, primary progressive aphasia, or progressive supranuclear palsy and are interested in participating in one of our research studies, please contact:

Carol Hoffman or Jennifer Farren, RN
301-452-1229 (please leave voice mail with contact information)
301-451-9805 (fax)

OR

Patient Recruitment and Public Liaison Office toll-free at:
1-800-411-1222
TTY: 1-866-411-1010

Neurodegenerative Disorders Clinic Care Providers at NIH:

Justin Kwan, M.D.
Staff Clinician
Sonja W. Scholz, M.D., Ph.D.
Lasker Clinical Research Scholar
Eric M. Wassermann, M.D.
Investigator
Bryan R. Smith, M.D.
Staff Clinician
Mary Kay Floeter, M.D., Ph.D.
Senior Collaborator
Michael E. Ward, M.D., Ph.D.
Investigator

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