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Huntington's disease
or Huntington's chorea (HD) is an inherited disorder characterized
by abnormal body movements called chorea, and loss of memory.
There also is evidence that doctors as far back as the Middle
Ages knew of this devastating disease. The incidence is 5
to 8 per 100,000. It takes its name from the New York physician
George Huntington who first described it precisely in 1872.
Huntington's disease is inherited in the autosomal dominant
fashion, meaning that it is on a dominant allele, and offspring
of carriers have a 50% chance of inheriting the disease. Symptoms
of the disorder include loss of cognitive ability (thinking,
speaking), changes in personality, jerking movements of the
face and body in general and unsteady walking. These symptoms
develop into dementia and cognitive decline (not mental retardation
which is an older term referring to the lack of development
of mental ability rather than loss of it.) and an advanced
form of jerking called chorea, the Greek word for dance. (Source:
Wikipedia. For more info click here...)
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The Baltimore Huntington Disease Center
is funded by the NINDS to conduct multidisciplinary research into
HD and is one of the Huntington Disease Society of America Centers
of Excellence. It is part of the Department of Psychiatry Division
of Neurobiolog, and offers a number of research programs, which
include presymtomatic testing, neuroimaging studies, clinical trials,
outreach studies, and tissue donation programs.
Dr. Sarah Reading coordinates the neuroimaging
component of Huntington's research at PNI, and is the Principal
Investigator of the Neuroimaging, Neuropsychiatry and Cognitive
Function Study described below. If you have any questions, or if
you are interested in participating in an HD research study, please
contact Arnold Bakker at 410-502-0468.
Neuroimaging,
Neuropsychiatry and Cognitive Function
PI: Sarah Reading, M.D.
IRB # 98-09-10-02
Funding Source:
The National Institute of Neurological Disease and Stroke (NINDS)
and the Johns Hopkins Neuro-Behavioral Research Unit (NBRU).
Background:
This study uses functional and structural MRI to study the subtle
cognitive dysfunction and structural brain changes associated with
neuropsychiatric illness. Patterns of brain activation and structural
brain measurements of patients with Huntington's disease, Parkinson's
disease, Affective illness and Schizophrenia are compared to each
other and to a group of matched controls. Our hypothesis is that
prior to the onset of psychiatric and neurological symptoms associated
with the illness in question, there might be changes in cognitive
function which may represent the first manifestations of pathologic
processes.
Specific Aims:
" Examine cognitive performance on tests of attention, memory
and executive function in patients with Huntington's disease, Parkinson's
disease, Affective illness, Schizophrenia and matched control subjects
using functional MRI
" Compare structural brain measurements between the different
groups of patients and control subjects
" Correlate findings with neuropsychological test results and
biological markers such as CAG repeat length in Huntington's disease
