NEW
FEDERALLY FUNDED RESEARCH PROJECT ON
ATAXIA
Submitted by:
Christopher M. Gomez, M.D., Ph.D umataxrc@tc.umn.edu
Title:
Genotype-Phenotype Correlations in Autosomal Dominant
Ataxia
Principal
Investigator: Christopher M. Gomez, M.D., Ph.D.
Co-Principal
Investigator: John H. Anderson, M.D., Ph.D.
Research
Site: University of Minnesota Ataxia Research
Center
Project
Dates: July 1, 1998 - June 30, 2003
Purpose of
Project: To improve understanding of the neuroanatomy,
neurophysiology, temporal progression, and functional
differences between genetically distinct forms of autosomal
dominant cerebellar ataxia and hereditary episodic
ataxia.
Description
of Project:
The autosomal
dominant spinocerebellar ataxias (SCAs) and episodic ataxias
(EAs) are a group of adult- and juvenile-onset
neurodegenerative diseases characterized by progressive or
intermittent dysarthria and incoordination due to
degeneration of the cerebellum and brainstem. Advances in
the genetic understanding of these diseases have established
that, despite similar clinical presentations, there are at
least 9 genetically distinct subtypes, SCA1-SCA7, EA-1 and
EA-2. Clinical observations have suggested that eye
movements and postural stability are universally but
differentially impaired in the SCAs, presumably due to
regional differences in brainstem and cerebellar involvement
in the disease. In this project we address the question of
whether specific patterns of eye movement abnormalities and
postural instability characterize genetically-defined SCAs.
The goal is to provide a more detailed understanding of
oculomotor and vestibular function in SCA that will allow us
to identify common abnormalities useful for comparative
scoring among kindreds and also abnormalities that are
unique to a given SCA subtype. These findings may also
indicate specific brain regions that are uniquely impaired
in certain forms of ataxia. To pursue the laboratory
studies, we will take advantage of a unique database at the
University of Minnesota and recent advances in both the
genetics of autosomal dominant ataxia and in the technology
for recording and analyzing eye movements and the dynamic
control of posture.
These studies
may identify diagnostic features for some SCA types and
provide valuable information about selective vulnerability
of CNS neurons and the pathogenesis of CAG repeat diseases.
They also may identify traits common to all patients with
ataxia that will be useful as quantitative measures for
therapeutic trials. These studies will test the hypothesis
that sensitive measures of eye movements and balance can be
used to detect and quantify ataxia from its earliest
stages.
Inquiries:
Those
interested in participating should respond by e-mail
(preferable), fax or postal service. All respondents will be
sent a questionaire to be completed and should be prepared
to provide additional information on previous neurological
and genetic testing.
Email:
umataxrc@tc.umn.edu
Fax:
612-626-2639
Postal
address:
University of
Minnesota Ataxia Research Center
Box 295 UMHC
420 Delaware St
Minneapolis, MN 55455
USA
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