Proton magnetic resonance spectroscopy in an Italian family with spinocerebellar Ataxia Type 1

Mario Mascalchi, Michela Tosetti, Rosaria Plasmati, Maria Cristina Bianchi, Carlo Tessa, Fabrizio Salvi, Marina Frontali, Franco Valzania, Carlo Bartolozzi, Carlo Alberto Tassinari

Research output: Contribution to journalArticle

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Abstract

Linkage and DNA analysis, magnetic resonance (MR) imaging, and single- voxel proton MR spectroscopy were obtained in 10 members of an Italian kindred with spinocerebellar ataxia type 1 (SCA1). The size of the basis pontis, cerebellar hemispheres, middle cerebellar peduncles, and medulla oblongata were decreased in 4 members carrying the SCA1 gene, compared with 6 unaffected subjects. Diffuse signal changes in the ponts and cerebellum were observed only in the carrier with the longest disease duration and greatest disability. The N-acetylaspartate/creatine ratio and the choline/creatine ratio in the basis pontis were markedly decreased in 2 symptomatic SCA1 carriers and modereately decreased in 2 asymptomatic SCA1 carriers, compared with the unaffected family members and a control group of 10 healthy volunteers. Minor decreases in the N-acetylaspartate/creatine ratio and the normal choline/creatine ratio were observed in the cerebellar hemisphere of the SCA1 carriers. Reduction of the N-acetylaspartate/creatine ratio, demonstrated by MR spectroscopy in the pons, is likely to reflect a loss of neuronal viability and might represent a biochemical marker of SCA1 more sensitive than brainstem and cerebellum atrosphy and signal changes shown by MR imaging.

Original languageEnglish
Pages (from-to)244-252
Number of pages9
JournalAnnals of Neurology
Volume43
Issue number2
DOIs
Publication statusPublished - Feb 1998

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Spinocerebellar Ataxias
Creatine
Choline
Cerebellum
Magnetic Resonance Imaging
Medulla Oblongata
Pons
Brain Stem
Proton Magnetic Resonance Spectroscopy
Healthy Volunteers
Magnetic Resonance Spectroscopy
Biomarkers
Control Groups
DNA
Genes
N-acetylaspartate

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Proton magnetic resonance spectroscopy in an Italian family with spinocerebellar Ataxia Type 1. / Mascalchi, Mario; Tosetti, Michela; Plasmati, Rosaria; Bianchi, Maria Cristina; Tessa, Carlo; Salvi, Fabrizio; Frontali, Marina; Valzania, Franco; Bartolozzi, Carlo; Tassinari, Carlo Alberto.

In: Annals of Neurology, Vol. 43, No. 2, 02.1998, p. 244-252.

Research output: Contribution to journalArticle

Mascalchi, M, Tosetti, M, Plasmati, R, Bianchi, MC, Tessa, C, Salvi, F, Frontali, M, Valzania, F, Bartolozzi, C & Tassinari, CA 1998, 'Proton magnetic resonance spectroscopy in an Italian family with spinocerebellar Ataxia Type 1', Annals of Neurology, vol. 43, no. 2, pp. 244-252. https://doi.org/10.1002/ana.410430215
Mascalchi, Mario ; Tosetti, Michela ; Plasmati, Rosaria ; Bianchi, Maria Cristina ; Tessa, Carlo ; Salvi, Fabrizio ; Frontali, Marina ; Valzania, Franco ; Bartolozzi, Carlo ; Tassinari, Carlo Alberto. / Proton magnetic resonance spectroscopy in an Italian family with spinocerebellar Ataxia Type 1. In: Annals of Neurology. 1998 ; Vol. 43, No. 2. pp. 244-252.
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