Cerebrospinal fluid homovanillic acid levels in rapid-onset dystonia-parkinsonism.
Rapid-onset dystonia-parkinsonism (RDP) is characterized by sudden onset over hours to days of dystonia, dysphagia, dysarthria, and parkinsonism. RDP has been reported by our group in two apparently unrelated families. We now report analysis of cerebrospinal fluid metabolites of dopamine, norepinephrine, and serotonin for mild and severely affected individuals, known asymptomatic gene carriers, and at-risk individuals from both families with RDP. Levels of the dopamine metabolite homovanillic acid (HVA) were decreased in severely affected patients and in some asymptomatic gene carriers. HVA levels increased with treatment in some affected individuals, but this increase did not predict clinical response to carbidopa/levodopa. We suggest that a low HVA level is a biological marker with modest association to the diagnosis of RDP.
Brashear
A
A
Department of Neurology, Indiana University School of Medicine, Indianapolis, USA.
Butler
I J
IJ
Hyland
K
K
Farlow
M R
MR
Dobyns
W B
WB
D000328:Adult; D000368:Aged; D000978:Antiparkinson Agents / Q000627:therapeutic use; D015415:Biomarkers / Q000134:cerebrospinal fluid; D003680:Deglutition Disorders; D004298:Dopamine / Q000134:cerebrospinal fluid; D004401:Dysarthria; D004421:Dystonia; D005260:Female; D006580:Genetic Carrier Screening; D006719:Homovanillic Acid / Q000134:cerebrospinal fluid*; D006801:Humans; D006897:Hydroxyindoleacetic Acid / Q000134:cerebrospinal fluid; D008297:Male; D008734:Methoxyhydroxyphenylglycol / Q000134:cerebrospinal fluid; D008875:Middle Aged; D009638:Norepinephrine / Q000134:cerebrospinal fluid; D010300:Parkinson Disease / Q000134:cerebrospinal fluid* / Q000235:genetics / Q000503:physiopathology*; D010375:Pedigree; D012701:Serotonin / Q000134:cerebrospinal fluid; D013997:Time Factors
D000978:Antiparkinson Agents; D015415:Biomarkers; D012701:Serotonin; D008734:Methoxyhydroxyphenylglycol; D006897:Hydroxyindoleacetic Acid; D004298:Dopamine; D009638:Norepinephrine; D006719:Homovanillic Acid