Parkinsonism in Spinocerebellar Ataxia Type 6

NCT01934998 | Completed

• 1 other identifier: 12-1335
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Spinocerebellar Ataxia Type 6

Keywords

SCA6, parkinsonism, Datscan

Outcome Measures

Primary Outcomes (1)

• The primary outcome would be the clinical feature of the parkinsonism and change in DAT density in putamen and caudate

  The UPDRS-II and -III scores

  10 months

Secondary Outcomes (2)

• The secondary outcome would be the INAS score

  10 months

• The secondary outcome would also be the SARA score

  10 months

Study Arms (2)

SCA6 and control

SCA6 and control

SCA6 or controls

Twelve SCA6 patients and 8 controls to be studied

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

SCA6 patients and healthy controls.

You may qualify if:

• 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.

Sponsors & Collaborators

• University of Chicago: lead

Study Sites (1)

University of Chicago

Chicago, Illinois, 60637, United States

Location

MeSH Terms

Conditions

Spinocerebellar Ataxias; Parkinsonian Disorders

Condition Hierarchy (Ancestors)

Cerebellar Ataxia; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinocerebellar Degenerations; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Ataxia; Dyskinesias; Neurologic Manifestations; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Basal Ganglia Diseases; Movement Disorders

Study Officials

• Tao Xie, MD PhD

  University of Chicago

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 27, 2013
• First Posted: September 4, 2013
• Study Start: July 1, 2013
• Primary Completion: April 1, 2015
• Study Completion: April 1, 2015
• Last Updated: April 28, 2015

Record last verified: 2015-04

Locations

US (1)