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Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10)

This study has been completed.
The University of Texas Medical Branch, Galveston
Information provided by (Responsible Party):
Tetsuo Ashizawa, Office of Rare Diseases (ORD) Identifier:
First received: October 18, 1999
Last updated: March 5, 2012
Last verified: March 2012

OBJECTIVES: I. Clinically evaluate members from families with a dominantly inherited ataxia and collect blood, skin and muscle samples for detailed molecular studies.

II. Perform detailed clinical evaluations on patients with recessively inherited ataxias.

Hereditary Ataxia

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10)

Resource links provided by NLM:

Further study details as provided by Tetsuo Ashizawa, Office of Rare Diseases (ORD):

Biospecimen Retention:   Samples With DNA
DNA from blood and skin and muscle biopsy samples.

Enrollment: 18
Study Start Date: November 1999
Study Completion Date: March 2009
Primary Completion Date: March 2009 (Final data collection date for primary outcome measure)
Detailed Description:

PROTOCOL OUTLINE: Participants undergo a comprehensive clinical and molecular evaluation. Studies include: neurologic evaluation, including magnetic resonance imaging and nerve conduction studies; ophthalmologic exam; audiologic exam, including auditory brain stem evoked response; DNA extraction from blood, skin and muscle; genotype phenotype correlation.

A neuropathologic evaluation is conducted postmortem, when possible.


Ages Eligible for Study:   3 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with inherited ataxia

Inclusion criteria:

Subjects who have the diagnosis of SCA10 and their immediate relatives.

Exclusion criteria:

Children under 3 years of age, pregnant women, prisoners, mentally incapacitated subjects, and subjects who do not give consent.

  Contacts and Locations
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Please refer to this study by its identifier: NCT00004306

United States, Texas
University of Texas Medical Branch at Galveston
Galveston, Texas, United States, 77555
Sponsors and Collaborators
Office of Rare Diseases (ORD)
The University of Texas Medical Branch, Galveston
Principal Investigator: Tetsuo Ashizawa, MD University of Texas, Galveston
  More Information

Responsible Party: Tetsuo Ashizawa, Professor and Chair, Department of Neurology, The University of Texas Medical Branch, Office of Rare Diseases (ORD) Identifier: NCT00004306     History of Changes
Other Study ID Numbers: 199/11796
Study First Received: October 18, 1999
Last Updated: March 5, 2012

Keywords provided by Tetsuo Ashizawa, Office of Rare Diseases (ORD):
hereditary ataxia
neurologic and psychiatric disorders
rare disease

Additional relevant MeSH terms:
Spinocerebellar Ataxias
Spinocerebellar Degenerations
Cerebellar Ataxia
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 processed this record on September 19, 2017