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Titolo:
DOPAMINE TRANSPORTER DENSITY MEASURED BY [I-123] BETA-CIT SINGLE-PHOTON EMISSION COMPUTED-TOMOGRAPHY IS NORMAL IN DOPA-RESPONSIVE DYSTONIA
Autore:
JEON BS; JEONG JM; PARK SS; KIM JM; CHANG YS; SONG HC; KIM KM; YOON KY; LEE MC; LEE SB;
Indirizzi:
SEOUL NATL UNIV HOSP,DEPT NEUROL,COLL MED SEOUL 110744 SOUTH KOREA SEOUL NATL UNIV HOSP,DEPT NUCL MED,COLL MED SEOUL 110744 SOUTH KOREA SEOUL NATL UNIV HOSP,DEPT CLIN PATHOL,COLL MED SEOUL 110744 SOUTH KOREA
Titolo Testata:
Annals of neurology
fascicolo: 6, volume: 43, anno: 1998,
pagine: 792 - 800
SICI:
0364-5134(1998)43:6<792:DTDMB[>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
HEREDITARY PROGRESSIVE DYSTONIA; CYCLOHYDROLASE-I GENE; PARKINSONS-DISEASE; DIURNAL FLUCTUATION; ONSET PARKINSONISM; CEREBRAL-PALSY; DEFICIENCY; MUTATIONS; FAMILY; SITES;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
38
Recensione:
Indirizzi per estratti:
Citazione:
B.S. Jeon et al., "DOPAMINE TRANSPORTER DENSITY MEASURED BY [I-123] BETA-CIT SINGLE-PHOTON EMISSION COMPUTED-TOMOGRAPHY IS NORMAL IN DOPA-RESPONSIVE DYSTONIA", Annals of neurology, 43(6), 1998, pp. 792-800

Abstract

The clinical distinction between dopa-responsive dystonia (DRD) and juvenile Parkinson's disease (JPD) can pose a diagnostic challenge. Both conditions are dopa responsive. However, long-term L-dopa benefit isvery different between the two. The difference in the prognosis is due to presence or absence of nigral cell loss. In JPD, there is degenerative nigral cell loss, whereas there are enzymatic defects in dopamine synthesis without cell loss in DRD. Mutations have been found in theGTP cyclohydrolase I (GCH-I) and tyrosine hydroxylase genes in DRD. As the discovered mutations are multiple and more are expected to be found, it is difficult to confirm or exclude DRD by mutation studies. Measurement of cerebrospinal fluid (CSF) neopterin will detect DRD from mutations in the GCH-I gene but not from mutations in tyrosine hydroxylase. The dopamine transporter (DAT) is a protein in the dopaminergic nerve terminals. (1R)-2 beta-Carbomethoxy-3 beta-(4-[I-123]iodophenyl)tropane ([I-123]beta-CIT) is a ligand for the DAT, and it was shown tobe a useful nuclear imaging marker for neurons that degenerate in Parkinson's disease (PD). As DRD was shown to have a normal DAT without nigral cell loss in a postmortem study, we predicted that the DAT measured in vivo by nuclear imaging will be normal in DRD and will differentiate DRD from JPD. Therefore, we performed [I-123]beta-CIT single-photon emission computed tomography ([I-123]beta-CIT SPECT) in clinicallydiagnosed DRD, PD, and JPD, and examined whether DAT imaging can differentiate DRD fi om PD and JPD. We then examined whether DAT imaging can provide a screening tool for molecular genetic studies, by studyingmutations in the candidate gene GCH-I and measuring CSF neopterin. Five females (4 from two families, and 1 sporadic) were diagnosed as DRDbased on early-onset foot dystonia and progressive parkinsonism beginning at ages 7 to 12. All patients were functioning normally on L-dopa100 to 250 mg/day for up to 8 years. SPECT imaging was obtained afterintravenous injection of [I-123]beta-CIT; 15 healthy volunteers served as normal control, and 6 PD and 1 JPD as disease controls. [I-123]beta-CIT striatal binding was normal in DRD, whereas it was markedly decreased in PD and JPD. Gene analysis showed a novel nonsense mutation in the GCH-I gene in one family. No mutation was found in the other family or in the sporadic case. CSF neopterin was markedly decreased in the 4 tested patients. [I-123] P-CIT SPECT is a sensitive method for probing the integrity of nigrostriatal dopaminergic nerve terminals. A normal striatal DAT in a parkinsonian patient is evidence for a nondegenerative cause of parkinsonism and differentiates DRD from JPD. Finding a new mutation in one family and failure to demonstrate mutations inthe putative gene in other cases supports the usefulness of DAT imaging in diagnosing DRD.

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Documento generato il 14/07/20 alle ore 10:03:20