Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF
BE Assmann, RO Robinson, RAH Surtees… - Neurology, 2004 - AAN Enterprises
BE Assmann, RO Robinson, RAH Surtees, C Brautigam, SJR Heales, RA Wevers…
Neurology, 2004•AAN EnterprisesTwo girls and one boy are described, with severe infantile parkinsonism-dystonia. This
syndrome is usually caused by endogenous dopamine deficiency but in these patients was
associated with elevated dopamine metabolites in CSF and an unusual eye movement
disorder: ocular flutter together with saccade initiation failure. Pyramidal tract signs also
emerged in the course of the disease in two patients. This combination of symptoms and
biochemical findings suggests a unique pathogenic mechanism.
syndrome is usually caused by endogenous dopamine deficiency but in these patients was
associated with elevated dopamine metabolites in CSF and an unusual eye movement
disorder: ocular flutter together with saccade initiation failure. Pyramidal tract signs also
emerged in the course of the disease in two patients. This combination of symptoms and
biochemical findings suggests a unique pathogenic mechanism.
Two girls and one boy are described, with severe infantile parkinsonism-dystonia. This syndrome is usually caused by endogenous dopamine deficiency but in these patients was associated with elevated dopamine metabolites in CSF and an unusual eye movement disorder: ocular flutter together with saccade initiation failure. Pyramidal tract signs also emerged in the course of the disease in two patients. This combination of symptoms and biochemical findings suggests a unique pathogenic mechanism.
American Academy of Neurology