Screening for dopa-responsive dystonia in patients with scans without evidence of dopaminergic deficiency (SWEDD)(447 views) DeRosa A, Carducci C, Carducci C, Peluso S, Lieto M, Mazzella A, Saccà F, Brescia Morra V, Pappata S, Leuzzi V, De Michele G
Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Via Pansini 5, 80131, Naples, Italy, anna_derosa@libero.it.
Department of Experimental Medicine, Sapienza University of RomeRome, Italy
Biostructure and Bioimaging Institute CNRNaples, Italy
References: Parkinson Study Group, Dopamine transporter brain imaging to assess the effects of pramipexole vs levodopa on Parkinson disease progression (2002) JAMA, 287, pp. 1653-166
Whone, A.L., Watts, R.L., Stoessl, A.J., Davis, M., Reske, S., Nahmias, C., Lang, A.E., REAL-PET Study Group, Slower progression of Parkinson’s disease with ropinirole versus levodopa: the REAL-PET study (2003) Ann Neurol, 54, pp. 93-101. , COI: 1:CAS:528:DC%2BD3sXlvVWisrw%3D, PID: 12838524
Fahn, S., Oakes, D., Shoulson, I., Kieburtz, K., Rudolph, A., Lang, A., Olanow, C.W., Parkinson Study Group, Levodopa and the progression of Parkinson’s disease (2004) N Engl J Med, 351, pp. 2498-2508. , COI: 1:CAS:528:DC%2BD2cXhtVGksbnE, PID: 15590952
Marshall, V.L., Patterson, J., Hadley, D.M., Grosset, K.A., Grosset, D.G., Two-year follow-up in 150 consecutive cases with normal dopamine transporter imaging (2006) Nucl Med Commun, 27, pp. 933-937. , PID: 17088677
Hughes, A.J., Daniel, S.E., Ben-Shlomo, Y., Lees, A.J., The accuracy of diagnosis of parkinsonian syndromes in a specialist movement disorder service (2002) Brain, 125, pp. 861-870. , PID: 11912118
Silveira-Moriyama, L., Schwingenschuh, P., O’Donnell, A., Schneider, S.A., Mir, P., Carrillo, F., Terranova, C., Lees, A.J., Olfaction in patients with suspected Parkinsonism and scans without evidence of dopaminergic deficit (SWEDDs) (2009) J Neurol Neurosurg Psychiatry, 80, pp. 744-748. , COI: 1:STN:280:DC%2BD1MvitlSrtw%3D%3D, PID: 19276101
Schneider, S.A., Edwards, M.J., Mir, P., Cordivari, C., Hooker, J., Dickson, J., Quinn, N., Bhatia, K.P., Patients with adult-onset dystonic tremor resembling parkinsonian tremor have scans without evidence of dopaminergic deficit (SWEDDs) (2007) Mov Disord, 22, pp. 2210-2215. , PID: 17712858
Segawa, M., Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5
DYT 5) (2003) Chang Gung Med J, 32, pp. 1-11
Ichinose, H., Ohye, T., Takahashi, E., Seki, N., Hori, T., Segawa, M., Nomura, Y., Nagatsu, T., Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene (1994) Nat Genet, 8, pp. 236-242. , COI: 1:CAS:528:DyaK2MXitVOgtLk%3D, PID: 7874165
Nygaard, T.G., Trugman, J.M., de Yebenes, J.G., Fahn, S., Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family (1990) Neurology, 40, pp. 66-69. , COI: 1:STN:280:DyaK3c7hsVKrtg%3D%3D, PID: 2296384
Trender-Gerhard, I., Sweeney, M.G., Schwingenschuh, P., Mir, P., Edwards, M.J., Gerhard, A., Polke, J.M., Bhatia, K.P., Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients (2009) J Neurol Neurosurg Psychiatry, 80, pp. 839-845. , COI: 1:STN:280:DC%2BD1MvovVKjsw%3D%3D, PID: 19332422
Jeon, B.S., Jeong, J.M., Park, S.S., Kim, J.M., Chang, Y.S., Song, H.C., Kim, K.M., Lee, S.B., Dopamine transporter density measured by [123I]beta-CIT single-photon emission computed tomography is normal in dopa-responsive dystonia (1998) Ann Neurol, 43, pp. 792-800. , COI: 1:CAS:528:DyaK1cXktVSjs7c%3D, PID: 9629849
Furukawa, Y., Nishi, K., Kondo, T., Mizuno, Y., Narabayashi, H., CSF biopterin levels and clinical features of patients with juvenile parkinsonism (1993) Adv Neurol, 60, pp. 562-567. , COI: 1:STN:280:DyaK3s7ivVSqsA%3D%3D, PID: 8420192
Bandmann, O., Goertz, M., Zschocke, J., Deuschl, G., Jost, W., Hefter, H., Müller, U., Oertel, W., The phenylalanine loading test in the differential diagnosis of dystonia (2003) Neurology, 60, pp. 700-702. , COI: 1:CAS:528:DC%2BD3sXptFKkuw%3D%3D, PID: 12601115
Erro, R., Picillo, M., Vitale, C., Amboni, M., Moccia, M., Longo, K., Cozzolino, A., Barone, P., Non-motor symptoms in early Parkinson’s disease: a 2-year follow-up study on previously untreated patients (2013) J Neurol Neurosurg Psychiatry, 84, pp. 14-17. , PID: 22993448
Antonozzi, I., Carducci, C., Vestri, L., Pontecorvi, A., Moretti, F., Rapid and sensitive method for high-performance liquid chromatographic analysis of pterins in biological fluids (1988) J Chromatogr, 459, pp. 319-324. , COI: 1:CAS:528:DyaL1MXhtFWjt7s%3D, PID: 3243907
Hyland, K., Fryburg, J.S., Wilson, W.G., Bebin, E.M., Arnold, L.A., Gunasekera, R.S., Jacobson, R.D., Trugman, J.M., Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test (1997) Neurology, 48, pp. 1290-1297. , COI: 1:CAS:528:DyaK2sXjsF2lu7k%3D, PID: 9153460
Chace, D.H., Millington, D.S., Terada, N., Kahler, S.G., Roe, C.R., Hofman, L.F., Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry (1993) Clin Chem, 39, pp. 66-71. , COI: 1:CAS:528:DyaK3sXpslertg%3D%3D, PID: 8419060
Saunders-Pullmana, R., Blau, N., Hyland, K., Zschocke, J., Nygaard, T., Raymond, D., Shanker, V., Bressman, S.B., Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test (2004) Mol Genet Metabol, 83, pp. 207-212
Benamer, T.S., Patterson, J., Grosset, D.G., Booij, J., de Bruin, K., van Royen, E., Speelman, J.D., Ries, V., Accurate differentiation of parkinsonism and essential tremor using visual assessment of [123I]-FP-CIT SPECT imaging: the [123I]-FP-CIT study group (2000) Mov Disord, 15, pp. 503-510. , COI: 1:STN:280:DC%2BD3cvnsVSntw%3D%3D, PID: 10830416
Jennings, D.L., Seibyl, J.P., Oakes, D., Eberly, S., Murphy, J., Marek, K., (23I) beta-CIT and single-photon emission computed tomographic imaging vs clinical evaluation in Parkinsonian syndrome: unmasking an early diagnosis (2004) Arch Neurol, 61, pp. 1224-1229. , PID: 15313838
Utiumi, M.A., Felício, A.C., Borges, C.R., Braatz, V.L., Rezende, S.A., Munhoz, R.P., Bressan, R.A., Teive, H.A., Dopamine transporter imaging in clinically unclear cases of parkinsonism and the importance of scans without evidence of dopaminergic deficit (SWEDDs) (2012) Arq Neuropsiquiatr, 70, pp. 667-673. , PID: 22990721
Sixel-Doring, F., Liepe, K., Mollenhauer, B., Trautmann, E., Trenkwalder, C., The role of 123I-FP-CIT-SPECT in the differential diagnosis of Parkinson and tremor syndromes: a critical assessment of 125 cases (2011) J Neurol, 258, pp. 2147-2154. , PID: 21547379
Marek, K., Seibyl, J., Eberly, S., Oakes, D., Shoulson, I., Lang, A.E., Hyson, C., Parkinson Study Group PRECEPT Investigators, Longitudinal follow-up of SWEDD subjects in the PRECEPT study (2014) Neurology, 82, pp. 1791-1797. , PID: 24759846
Leuzzi, V., Carducci, C., Chiarotti, F., D’Agnano, D., Giannini, M.T., Antonozzi, I., Carducci, C., Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of Segawa disease (2013) JIMD Rep, 7, pp. 67-75. , PID: 23430498
Screening for dopa-responsive dystonia in patients with scans without evidence of dopaminergic deficiency (SWEDD)