This study will screen patients with cerebellar ataxia to check for antibodies that indicate
allergy to gluten (wheat protein) and will study the effect of a gluten-free diet in
patients with these antibodies. Patients with cerebellar ataxia have problems with
coordination, resulting in "clumsiness" and unsteadiness of posture and walking.
There are many known causes of cerebellar ataxia, but in many patients the cause is unknown
and there are no available treatments. Cerebellar ataxia has been recognized as a
complication of celiac disease, a syndrome characterized by sensitivity to gluten.
Recognizing gluten sensitivity in patients with cerebellar ataxia would be important for two
reasons: it would be one of the rare causes of the disease that are potentially treatable,
and it would identify patients at risk for developing gastrointestinal cancers, particularly
Patients with cerebellar ataxia of known or unknown cause and normal healthy volunteers of
any age are eligible for this study.
All participants will have a medical history, physical examination, blood drawn (30
milliliters, or 2 tablespoons) to check for celiac disease antibodies, and possibly other
lab tests. This completes the participation of normal volunteers.
All patients will have magnetic resonance imaging (MRI) of the brain. This diagnostic tool
uses a strong magnetic field and radio waves instead of X-rays to show structural and
chemical changes in tissues. During the scanning, the patient lies on a table in a narrow
cylinder containing a magnetic field. He or she can speak with a staff member via an
intercom system at all times during the procedure. Scanning times vary from 20 minutes to 2
Patients who have celiac disease antibodies will have an upper gastrointestinal (GI)
endoscopy intestinal biopsy. For this procedure, a flexible tube is inserted into the mouth
and down the throat into the stomach and duodenum (the upper part of the small intestine),
where a small tissue sample is taken for microscopic examination. Patients with these
antibodies will be put on a gluten-free diet and will be followed at NIH every 3 months for
12 months. On the first visit, patients will have their ataxia evaluated using NINDS's
ataxia scale and will meet with a dietitian for instructions for a gluten-free diet. On the
second through fifth visits (after 3, 6, 9 and 12 months, respectively, on the gluten-free
diet), patients will have their ataxia evaluated, speak with a dietitian to assess their
nutritional status, weight, and compliance with the diet, and provide a blood sample for
celiac disease antibody testing.
At the completion of the study, patients may choose to continue or stop the gluten-free
diet. If the ataxia assessments show improvement, patients will be advised to continue the
gluten-free diet permanently.
In many patients with cerebellar ataxia, the etiology is unknown. Sensitivity to gluten
(wheat protein) has been suggested as a cause for cerebellar ataxia even in the absence of
malabsorption symptoms or intestinal pathology. However, the prevalence of gluten
sensitivity in patients presenting with cerebellar ataxia is unknown and the effect of
gluten-free diet on gluten sensitivity-associated cerebellar ataxia has not been
systematically studied. The aim of this project is: 1) To identify gluten sensitive
cerebellar ataxia patients attending the Human Motor Control Clinic at the NIH using tests
for celiac disease antibodies as a screening method. 2) To conduct open-label controlled
clinical trial to assess the efficacy of gluten-free diet in the patients identified using a
detailed cerebellar ataxia scale as an objective clinical measure.
Patients with sporadic cerebellar ataxia of unknown etiology.
Patients with genetically confirmed cerebellar ataxia (SCA1,2,3,6, and 7, Friedreich's
ataxia) or cerebellar ataxia due to known cause (e.g., cerebellar infarct, cerebellar
degeneration secondary to alcohol abuse).
AGE AND SEX-MATCHED NORMAL SUBJECTS:
With no neurological or psychiatric disease and no medical or family history of celiac