Abstract
BACKGROUND: Glutaric aciduria type I (GA-I) is a
cerebral organic aciduria caused by inherited deficiency of
glutaryl-CoA dehydrogenase and is characterized
biochemically by an accumulation of putatively neurotoxic
dicarboxylic metabolites. The majority of untreated
patients develops a complex movement disorder with
predominant dystonia during age 3-36 months. Magnetic
resonance imaging (MRI) studies have demonstrated
striatal and extrastriatal abnormalities. AIMS/METHODS:
The major aim of this study was to elucidate the complex
neuroradiological pattern of patients with GA-I and to
associate the MRI findings with the severity of
predominant neurological symptoms. In 180 patients,
detailed information about the neurological presentation
and brain region-specific MRI abnormalities were obtained
via a standardized questionnaire. RESULTS: Patients with
a movement disorder had more often MRI abnormalities in
putamen, caudate, cortex, ventricles and external CSF
spaces than patients without or with minor neurological
symptoms. Putaminal MRI changes and strongly dilated
ventricles were identified as the most reliable predictors
of a movement disorder. In contrast, abnormalities in
globus pallidus were not clearly associated with a movement
disorder. Caudate and putamen as well as cortex, ventricles
and external CSF spaces clearly collocalized on a
two-dimensional map demonstrating statistical similarity
and suggesting the same underlying pathomechanism.
CONCLUSIONS: This study demonstrates that complex
statistical methods are useful to decipher the
age-dependent and region-specific MRI patterns of rare
neurometabolic diseases and that these methods are helpful
to elucidate the clinical relevance of specific MRI
findings.
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