Proton magnetic resonance spectroscopy in an Italian family with spinocerebellar ataxia type 1.
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 pons 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 moderately 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 atrophy and signal changes shown by MR imaging.
Mascalchi
M
M
Cattedra di Radiologia, Università di Pisa, Italy.
Tosetti
M
M
Plasmati
R
R
Bianchi
M C
MC
Tessa
C
C
Salvi
F
F
Frontali
M
M
Valzania
F
F
Bartolozzi
C
C
Tassinari
C A
CA
D000328:Adult; D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000032:analysis; D001923:Brain Chemistry; D002531:Cerebellum / Q000473:pathology*; D002794:Choline / Q000032:analysis*; D002874:Chromosome Mapping; D003401:Creatine / Q000032:analysis*; D004247:DNA / Q000032:analysis; D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D007294:Inositol / Q000032:analysis; D007558:Italy; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination; D010375:Pedigree; D011149:Pons / Q000473:pathology*; D013132:Spinocerebellar Degenerations / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics*; D018709:Statistics, Nonparametric
D001224:Aspartic Acid; D007294:Inositol; D004247:DNA; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline