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Parkinsonism in Spinocerebellar Ataxia Type 6

This study has been completed.
Information provided by (Responsible Party):
University of Chicago Identifier:
First received: August 27, 2013
Last updated: April 27, 2015
Last verified: April 2015

The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of dominantly inherited progressive ataxia disorders. More than 30 different gene loci have been identified so far. The most common SCAs, which together account for more than half of all affected families, are SCA1, SCA2, SCA3, and SCA6. Each of these disorders is caused by a translated CAG repeat expansion mutation. SCA1, SCA2, and SCA3 usually have an onset between 30 and 40, and SCA6 usually begins at the age of 50 to 60. In addition to progressive ataxia, SCA1, SCA2, and SCA3 frequently present with additional non-ataxic symptoms, including parkinsonism. Carbidopa/levodopa was found to have a good therapeutic effect on parkinsonism.

The SCA6 used to be considered a pure cerebellar disorder. However, a recent large study on natural history of SCAs found that patients with SCA6 often had nonataxia symptoms, an observation that challenges the view that SCA6 is a purely cerebellar disorder. Parkinsonism in SCA6 was rarely reported, except in a case serial, or a small size study in Korean patients.

Dopamine transporter (DAT) is a very reliable dopaminergic neuronal marker. Reduction in DAT density detected by I123 SPECT DaTscanTM in the dopaminergic neuron terminal striatum was reported in one small size study consisting of eight SCA6 patients in Korea. There was also a PET study using different radioligand for DAT in a small group of SCA6 patients in Germany, which found sub-clinical change in DAT density in some patients with SCA6.

There has been no study so far in the US on parkinsonism and other non-ataxia spectrum and striatal dopaminergic damage in SCA6, probably because non-ataxia feature of SCA6 hasn't received much attention, and also because DaTscanTM hasn't been clinically available in US until recently. The only two published studies on SCA6 and DAT were from Korea and Germany, which were of small subject size. There has been no treatment available for SCA6 so far.

Our hypothesis is that parkinsonism and other non-ataxia spectrum and striatal dopaminergic neurodegeneration are part of the SCA6 disease spectrum.

Spinocerebellar Ataxia Type 6

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Cross-Sectional
Official Title: Characterization of the Parkinsonism and Other Non-ataxia Spectrum and Striatal Dopaminergic Degeneration in Spinocerebellar Ataxia Type 6

Resource links provided by NLM:

Further study details as provided by University of Chicago:

Primary Outcome Measures:
  • The primary outcome would be the clinical feature of the parkinsonism and change in DAT density in putamen and caudate [ Time Frame: 10 months ]
    The UPDRS-II and -III scores

Secondary Outcome Measures:
  • The secondary outcome would be the INAS score [ Time Frame: 10 months ]
    INAS score and its association with the DAT density and UPDRS scores

  • The secondary outcome would also be the SARA score [ Time Frame: 10 months ]
    The SARA score and its association with the DAT density and UPDRS scores

Enrollment: 20
Study Start Date: July 2013
Study Completion Date: April 2015
Primary Completion Date: April 2015 (Final data collection date for primary outcome measure)
SCA6 and control
SCA6 and control
SCA6 or controls
Twelve SCA6 patients and 8 controls to be studied

Detailed Description:

Specifically, we would expect to see

  1. Parkinsonism and other non-ataxia symptoms are more commonly present in SCA6 patients than we used to think.
  2. Parkinsonism is associated with the loss of DAT in striatum.
  3. Parkinsonism and other non-ataxia symptoms are also associated with the expanded allele repeat number, the disease duration, and the severity of ataxia, in addition to DAT loss.

Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
SCA6 patients and healthy controls.

Inclusion Criteria:

  • Patients 18 years old or older with progressive ataxia and positive genetic test for SCA6 will be recruited. Those who take medications known to affect DAT binding, such as Ritalin, Cocaine, and Adderall will be excluded. Those taking SSRIs for depression will be asked to stop the medications for at least 24 hours before the DaTscanTM. All study patients will have the decision making capability to understand the study and requirements and consent for themselves.

The age-matched controls will most likely be the patients' spouses. However friends or family members may also serve as controls if needed. Control subjects will have no ataxia, parkinsonism, myoclonus and other focal neurological symptoms and deficits.

Exclusion Criteria:

  • Subjects who don't meet the inclusion criteria.
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Please refer to this study by its identifier: NCT01934998

United States, Illinois
University of Chicago
Chicago, Illinois, United States, 60637
Sponsors and Collaborators
University of Chicago
Principal Investigator: Tao Xie, MD PhD University of Chicago
  More Information

Responsible Party: University of Chicago Identifier: NCT01934998     History of Changes
Other Study ID Numbers: 12-1335
Study First Received: August 27, 2013
Last Updated: April 27, 2015

Keywords provided by University of Chicago:
SCA6, parkinsonism, Datscan

Additional relevant MeSH terms:
Spinocerebellar Ataxias
Spinocerebellar Degenerations
Cerebellar Ataxia
Parkinsonian Disorders
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Basal Ganglia Diseases
Movement Disorders processed this record on April 28, 2017