Abstract
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.
References
Nov 1, 1992·Neurology·P A LeWittD Oakes
Jul 30, 1987·Clinica Chimica Acta; International Journal of Clinical Chemistry·D W Howells, K Hyland
Sep 5, 1986·Journal of Chromatography·D W HowellsK Hyland
Jul 1, 1980·Annals of Neurology·W E SeifertI J Butler
Jul 1, 1995·Movement Disorders : Official Journal of the Movement Disorder Society·A Ishikawa, T Miyatake
Mar 1, 1995·Archives of Neurology
Jan 1, 1993·Journal of Neural Transmission. Parkinson's Disease and Dementia Section·H TohgiT Kikuchi
Dec 1, 1993·Neurology·W B DobynsX O Breakefield
Apr 1, 1997·Neurology·A BrashearW B Dobyns
Citations
Aug 12, 1999·Annals of Neurology·P L KramerA Brashear
Nov 30, 1999·Annals of Neurology·S J AugoodD G Standaert
Jan 26, 1999·Movement Disorders : Official Journal of the Movement Disorder Society·A BrashearG D Hutchins
Jul 12, 2002·Movement Disorders : Official Journal of the Movement Disorder Society·Gurutz LinazasoroAsier Lasa
Nov 26, 2009·Journal of Neurology·Marina SvetelVladimir S Kostić
Aug 8, 2001·Parkinsonism & Related Disorders·J Jankovic, R Tintner
Jul 10, 2003·Lancet Neurology·Patricia M de Carvalho Aguiar, Laurie J Ozelius
Jun 19, 2010·The New England Journal of Medicine·Daniel TarsyPhillip C Song
Feb 7, 2007·Brain : a Journal of Neurology·Allison BrashearLaurie J Ozelius
Aug 31, 2012·Neurology·Allison BrashearW Vaughn McCall
Apr 18, 2014·Lancet Neurology·Erin L HeinzenUNKNOWN ATP1A3 Working Group
Sep 30, 2004·Movement Disorders : Official Journal of the Movement Disorder Society·Angela DeutschländerKai Bötzel
Dec 1, 2009·Surgical Neurology·Jia-Wei LinLiang-Yo Yang
Aug 5, 2008·Journal of the Neurological Sciences·Paolo Zanotti-FregonaraEmmanuel Roze
Apr 14, 2016·Neuroscience and Biobehavioral Reviews·M SmitM A Tijssen
Nov 10, 2011·Neuroscience and Biobehavioral Reviews·Pernille BøttgerKarin Lykke-Hartmann
Mar 26, 2002·Brain : a Journal of Neurology·Andrea H Németh
Jul 21, 2004·Neuron·Patricia de Carvalho AguiarLaurie J Ozelius
Jul 6, 2016·Frontiers in Physiology·Thomas H Holm, Karin Lykke-Hartmann
Jun 6, 2003·Seminars in Pediatric Neurology·Ergun Y Uc, Robert L Rodnitzky
Sep 25, 2004·Movement Disorders : Official Journal of the Movement Disorder Society·Jacek ZarembaAllison Brashear
Feb 22, 2017·Movement Disorders : Official Journal of the Movement Disorder Society·Elizabeth J Slow, Anthony E Lang
Oct 7, 2021·Disease Models & Mechanisms·Hannah W Y NgSteven J Clapcote