Spettroscopia protonica a risonanza magnetica del ponte e del cervelletto in una famiglia con atassia spinocerebellare tipo 1

Abstract

Single voxel proton MR spectroscopy of the basis pontis showed significantly decreased N-acetyl-aspartate/creatine and choline/creatine ratios in two patients with spinocerebellar ataxia type 1 (SCA1) and two still asymptomatic SCA1 carriers compared to six unaffected family members. No lactate was found in any family member.

A significant decrease of the N-acetyl-aspartate/creatine but not of the choline/creatine ratio was also observed in the deep cerebellar hemisphere of the four SCA 1 carriers compared to the unaffected family members.

The reduction of the N-acetyl-aspartate/creatine ratio in the basis pontis of SCA1 carriers is likely to reflect the neuronal loss typical of the olivopontocerebellar degeneration underlying SCA1 and might represent an early biochemical marker of the disease.