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

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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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ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Mascalchi, M., Tosetti, M., Plasmati, R., Bianchi, M. C., Tessa, C., Salvi, F., Frontali, M., Valzania, F., Bartolozzi, C., & Tassinari, C. A. (1998). Proton magnetic resonance spectroscopy in an Italian family with spinocerebellar Ataxia Type 1. Annals of Neurology, 43(2), 244-252. https://doi.org/10.1002/ana.410430215