UT Southwestern Ataxia Clinic Is a Destination Clinic to Address This Complex Disorder
UT Southwestern Medical Center has opened a multidisciplinary clinic for the treatment and research of cerebellar ataxia, a group of disabling neurological disorders centered in the cerebellum. The disorders, which affect up to 150,000 people in the U.S., result in uncoordinated limb and trunk movements and falls, frequently leading to wheelchair confinement.
Led by Vikram Shakkottai, M.D., Ph.D., Associate Professor and Vice Chair for Basic Research in the Department of Neurology, as well as a member of the Peter O’Donnell Jr. Brain Institute, the new Multidisciplinary Ataxia Clinic is intended to make important and needed strides in the diagnosis, study, and treatment of this difficult disease. The clinical care of individuals with ataxia and cerebellar disorders amplifies UT Southwestern’s existing strength in childhood cerebellar disorders provided by pediatric neurologist Peter Tsai, M.D., Ph.D., Associate Professor of Neurology.
BK channels (green) in the cerebellum are almost exclusively expressed in cerebellar Purkinje neurons that are positive for calbindin (red). BK channels are expressed in the soma and dendrites of cerebellar Purkinje neurons. Credit: Shakkottai lab
“Knowledge about the etiology of ataxia and potential treatment options, even among neurologists, is poor,” Dr. Shakkottai says. “A large portion of cerebellar disorders are degenerative in etiology, and a significant proportion of those are inherited. Differentiating inherited causes from potential immune causes is vital to both avoid unnecessary treatment and initiate appropriate treatment early.”
The UTSW ataxia clinic is the only one of its kind in the entire Southwest.
The right setting to counter the disease
According to Dr. Shakkottai, patients in the Multidisciplinary Ataxia Clinic who are diagnosed with ataxia or related neurological diseases are provided sufficient information, in the right setting, to ensure they understand what the future holds for them and what approaches – both pharmacological and nonpharmacological – can counter symptoms of the disease.
Along with neurologists, the clinic also involves specialists in physical therapy, speech pathology, and occupational therapy to give patients broad-based care for the various aspects of their condition, which can include impairments of balance, speech, and hand dexterity. The clinic’s physical therapists can provide important input at the same time as clinical visits, a feature that is vital for patients with ataxia, who often travel long distances to receive appropriate expertise.
In addition, Dr. Shakkottai notes the availability of comprehensive genetic testing through the clinic. Because ataxia can be misdiagnosed as multiple sclerosis or other neurodegenerative disorders, genetic testing is often useful for identifying the underlying cause. Also, a substantial number of patients with ataxia have a genetic basis for the disorder. Dr. Shakkottai has developed a protocol that in collaboration with Dr. Tsai will enhance genetic testing for pediatric and adult cerebellar disorders.
“Genetic testing has helped families finally have an answer for the cause of their ataxia and has been incredibly helpful in identifying treatable causes of the disorder, in predicting future disability, and in family planning, Dr. Shakkottai says.”
He points to one young woman whose testing identified a recessive form of ataxia that can cause ovarian failure. Knowing the diagnosis enabled her to make decisions about starting a family, with the confidence that her child would not be affected by the ataxia and potential cognitive impairment seen in herself and her sibling.
A home for research
The Multidisciplinary Ataxia Clinic is also a home for research into the condition. Dr. Shakkottai has been active in enhancing ataxia research in both the lab and the clinic. In addition, he has added UT Southwestern to a multi-institutional, longitudinal, observational study of participants with inherited ataxia that he previously led at the University of Michigan. More than 600 genes have been identified to cause ataxia as the only symptom or as a prominent feature of the disease. About 20% of genes in families with a dominant or recessive pedigree remain undiscovered. Clinical genetic testing of patients in the clinic will provide information for novel gene discovery.
Basic research into mechanisms of disease and development of therapy is an important endeavor for UT Southwestern’s ataxia program. The Department of Neurology at UT Southwestern recently recruited Marek Napierala, Ph.D., Jill Napierala, Ph.D., and Hirofumi Fujita M.D., Ph.D., whose research interests span understanding disease mechanisms in various inherited ataxias and normal cerebellar function. Additionally, Elan Louis, M.D., M.S., Chair of Neurology at UT Southwestern, is renowned for his study of cerebellar anatomical changes in tremor. With six faculty members within the department studying various aspects of cerebellar impairment, UTSW has the largest group of cerebellar researchers in the country.
“The activities of the Multidisciplinary Ataxia Clinic will help us realize our goal of becoming one of the few ataxia programs – nationally or internationally – with strengths in clinical and basic research and in state-of-the-art clinical care,” Dr. Shakkottai says.