Top

Published in:

01-02-2011 | Short Commentary

Striatal dopamine function in a family with multiple SCA-3 phenotypes

Authors: Esther Cubo, Mateo Diez López, Jon Infante Ceberio, Isabel Lanchas Alfonso, Begoña Miguel Martinez, José Berciano, Fernando Iglesias, José A. Obeso

Published in: Journal of Neurology | Issue 2/2011

Abstract

We present single photon emission computed tomography (SPECT) studies using 123IFP-CIT (DAT scan) and 123I-IBZM imaging, performed on four members of a family with genetically proven spinocerebellar ataxia type 3 (SCA-3). DAT scan showed significant asymmetric decreased binding in the striatum in the two members with predominant parkinsonian phenotype, with mild and symmetric decreased binding in the member with the cerebellar phenotype, and normal in the asymptomatic member. The IBZM SPECT studies showed mild and asymmetrical reduction of the striatal dopamine D2 receptor density (parkinsonian members). SCA-3 can present with a levodopa responsive parkinsonism phenotype, and an abnormal DAT scan showing predominant impairment of presynaptic dopamine function.

Yen TC, Tzen KY, Chen MC, Chou YH, Chen RS, Chen CJ et al (2002) Dopamine transporter concentration is reduced in asymptomatic Machado–Joseph disease gene carriers. J Nucl Med 43:153–159PubMed

Wilder-Smith E, Tan EK, Law HY, Zhao Y, Ng I, Wong MC (2003) Spinocerebellar ataxia type 3 presenting as an l-DOPA responsive dystonia phenotype in a Chinese family. J Neurol Sci 15(213):25–28CrossRef

WMA Medical Ethics Committee (1999) Updating the WMA declaration of Helsinki. World Med J 45:11–13

Wenning GK, Donnemiller E, Granata R, Riccabona G, Poewe W (1998) 123I-β-CIT and 123I-IBZM-SPECT scanning in levodopa-naïve Parkinson’s disease. Mov Disord 13:438–445CrossRefPubMed

Benamer HTS, Patterson J, Grosset DG, Booij J, De Bruin K, Van Royen E et al (2000) Accurate differentiation of parkinsonism and essential tremor using visual assessment of [123I]-FP-CIT SPECT imaging: the [123I]-FP-CIT study group. Mov Disord 15:503–510CrossRefPubMed

Onodera O, Idezuka J, Igarashi S, Takiyama Y, Endo K, Takano H et al (1998) Progressive atrophy of cerebellum and brainstem as a function of age and the size of expanded CAG repeats in the MJD1 gene in the Machado–Joseph disease. Ann Neurol 43:288–296CrossRefPubMed

Yen TC, Lu CS, Tzen KY, Wey SP, Chou YH, Weng YH et al (2000) Decreased dopamine transporter binding in Machado–Joseph disease. J Nucl Med 41:994–998PubMed

Van Laere K, De Ceuninck L, Dom R, Van den Eynden J, Vanbilloen H, Cleynhens J et al (2004) Dopamine transporter SPECT using fast kinetic ligands: 123I-FP-beta-CIT versus ^99mTc-TRODAT-1. Eur J Nucl Med Mol Imaging 31:1119–1127CrossRefPubMed

Buhmann C, Bussopulos A, Oechsner M (1997) Dopaminergic response in parkinsonian phenotype of Machado–Joseph disease. Neurology 49:1133–1136

Title: Striatal dopamine function in a family with multiple SCA-3 phenotypes
Authors: Esther Cubo
Mateo Diez López
Jon Infante Ceberio
Isabel Lanchas Alfonso
Begoña Miguel Martinez
José Berciano
Fernando Iglesias
José A. Obeso
Publication date: 01-02-2011
Publisher: Springer-Verlag
Published in: Journal of Neurology / Issue 2/2011
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-010-5724-z

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Striatal dopamine function in a family with multiple SCA-3 phenotypes

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 2/2011

Aphasia assessment and functional outcome prediction in patients with aphasia after stroke

Disabling Parkinsonism following brief exposure to lithium carbonate in amyotrophic lateral sclerosis

Heterozygous X-linked adrenoleukodystrophy-associated myelopathy mimicking primary progressive multiple sclerosis

Predicting employment status in multiple sclerosis patients: the utility of the MS functional composite

Pure alexia caused by separate lesions of the splenium and optic radiation

Nocturia is an independent predictor of severe obstructive sleep apnea in patients with ischemic stroke