Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) to Study Natural History and Genetic Modifiers in Spinocerebellar Ataxia (SCA)

Purpose

Spinocerebellar ataxias (SCA) are genetic neurological diseases that cause imbalance, poor coordination, and speech difficulties. There are different kinds of SCA and this study will focus on types 1, 2,3, and 6 (SCA 1, SCA 2, SCA 3 , also known as Machado-Joseph disease and SCA 6). The diseases are rare, slowly progressive, cause increasingly severe neurological difficulties and are variable across and within genotypes. The purpose of this research study is to bring together a group of experts in the field of SCA for the purpose of learning more about the disease.

Procedures

  • Blood collection for DNA testing, analysis (genetic modifier study) and banking
  • Medical history
  • Physical exam
  • Scale for Assessment and Rating of Ataxia (SARA)
  • Timed measure of your hand dexterity and walking (25 ft)
  • Questionnaire about your daily living activities, your physical and mental quality of life and assessment of depression
  • Disease stage estimation by the clinician
  • Demographics and disease-related information (i.e. age, sex, race, age at disease onset, disease duration)
  • Review of your medical records

For study details, please contact Amanda Cowsert:

Eligibility 

  • 6 years and older
  • Presence of symptomatic ataxic disease
  • Definite molecular diagnosis of SCA 1, 2,3,or 6 either in the subject or another affected family member
  • Willingness to participate in the study and ability to give informed consent

Additional criteria apply, please contact Amanda Cowsert:

Age

18 and under
18 to 65
65 and over

Gender

Male
Female

Can be done from home

No

Keywords

Spinocerebellar Ataxia, Neurology, Ataxia

Principal Investigator

S.H. Subramony, MD

Department

Neurology

Contact Information

amanda.cowsert@neurology.ufl.edu

352-294-8778


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