Proton magnetic resonance spectroscopy (1H-MRS) is evolving from single-volume localized acquisitions to multiple-volume acquisitions using magnetic resonance spectroscopic imaging (1H-MRSI). The ...normal regional patterns of 1H-MRSI-detectable metabolite signal intensities have yet to be established. We studied 13 healthy young adults with a multiple-section 1H-MRSI technique. The metabolite signals measured were N-acetylaspartate (NA), choline-containing compounds (CHO), creatine-phosphocreatine (CRE), and lactate. Ten neuroanatomic regions (nine bilateral) were identified in gray matter, white matter, and basal nuclei. Analysis of the data led to the following conclusions: (1) NA and CHO signals from centrum semiovale (CSO) can be used as a normalizing factor to reduce intersubject variability due to external causes; (2) in normal human brain, there is no left versus right asymmetry in the regions studied; (3) statistically significant patterns of signal distribution of NA, CHO, and CRE can be identified in normal human brain; and (4) CSO-normalized metabolite signal intensities and metabolite ratios complement each other for the detection of significant regional differences.
Estrogen receptor 1 gene polymorphisms (ESR1) have been found to be associated with multiple sclerosis (MS) in both Japanese and Finnish populations. We investigated the association between ESR1 ...polymorphisms (
PvuII and
XbaI) and MS in a study of 132 MS patients and 129 controls from the same geographic background (southern Italy). Allelic and genotypic frequencies were not different between MS patients and population controls for either the
PvuII or
XbaI polymorphism. This result suggests that the association between a given disease and a genomic characteristic must be confirmed by separate investigations in different populations.
This follow-up study assessed the 2-year clinical and magnetic resonance imaging (MRI) outcomes of patients with multiple sclerosis (MS) originally enrolled in an MRI study conducted at eight centres ...in south Italy (the South Italy Mobile MRI Project). Of the 597 MS patients recruited at baseline, 391 returned for the follow-up study. Of these, 363 provided 2-year clinical and MRI follow-up data, and 215 were still undergoing treatment with one of four interferon beta regimens: Avonex, 30 mcg intramuscularly once weekly; Betaferon, 250 mcg subcutaneously (sc) every other day; Rebif 22 mcg sc three times weekly (tiw; Rebif 22); or Rebif 44 mcg sc tiw (Rebif 44). Over the 2-year follow-up period, patients receiving the higher dose of Rebif were more likely to remain free from relapses odds ratio (OR) = 2.23 and from developing both new T2 (OR = 0.15) and new T1 black hole lesions (OR = 0.22), when compared with patients in the Avonex group. Despite some limitations in the trial design, the results from this follow-up study provide helpful clinical and MRI data on the efficacy of interferon beta regimens in MS patients treated in the clinical setting.
External radiation therapy of brain tumors may cause adverse effects on normal brain tissue, resulting in severe neuropsychological and cognitive impairment. We investigated the late delayed ...radiation effects in the white matter (WM) using
1H magnetic resonance spectroscopic imaging (
1HMRSI). Nine glioma patients with local radiation-induced signal abnormalities in the T
2-weighted MR images were studied with nine age- and sex-matched controls. The metabolite ratios in the radiation-induced hyper intensity area (RIHA) and in the normal appearing white matter (NAWM) of the patients were compared with respective WM areas of the controls. In RIHA, choline/creatine (Cho/Cr) was 17% decreased (1.22 ± 0.13 vs 1.47 ± 0.16,
p = 0.0027, significant (s), unpaired Student’s
t test with Bonferroni correction) in the patients compared to the controls, while there was no difference in N-acetyl aspartate/Cr (NAA/Cr) (2.49 ± 0.57 vs 2.98 ± 0.32,
p = 0.039) or NAA/Cho (2.03 ± 0.40 vs 2.04 ± 0.17,
p = 0.95). In NAWM, Cho/Cr was 24% decreased (1.21 ± 0.15 vs 1.59 ± 0.13,
p < 0.0001, s) and NAA/Cho was 20% increased (2.49 ± 0.49 vs 1.98 ± 0.15,
p = 0.0082, s) in the patients compared to the controls, while there was no difference in NAA/Cr (2.99 ± 0.46 vs 3.16 ± 0.32,
p = 0.38). NAA
RIHA/NAA
NAWM was 25% decreased (0.75 ± 0.20 vs 1.00 ± 0.12,
p = 0.0043, s) and Cr
RIHA/Cr
NAWM was 16% decreased (0.89 ± 0.15 vs 1.06 ± 0.10,
p = 0.013, s) in the patients compared to the controls, while there was no difference in Cho
RIHA/Cho
NAWM (0.92 ± 0.23 vs 0.98 ± 0.10,
p = 0.47).
1HMRSI reveals widespread chemical changes in the WM after radiation therapy. In RIHA, there is loss of NAA, Cho, and Cr implying axonal and membrane damage and in NAWM, there is loss of Cho, reflecting membrane damage.
Mutations in the Cu/Zn superoxide dismutase (Sod1) gene have been reported to cause adult-onset autosomal dominant Amyotrophic Lateral Sclerosis (FALS). In sporadic cases (SALS) de novo mutations in ...the Sod1 gene have occasionally been observed. The recent finding of a mutation in the VAMP/synaptobrevin-associated membrane protein B (VAPB) gene as the cause of amyotrophic lateral sclerosis (ALS8), prompted us to investigate the entire coding region of this gene in SALS patients. One hundred twenty-five unrelated patients with adult-onset ALS and 150 healthy sex-age-matched subjects with the same genetic background were analyzed. Genetic analysis for all exons of the VAPB gene by DHPLC revealed 5 variant profiles in 83 out of 125 SALS patients. Direct sequencing of these PCR products revealed 3 nucleotide substitutions. Two of these were found within intron 3 of the gene, harbouring 4 variant DHPLC profiles. The third nucleotide variation (Asp130Glu) was the only substitution present in the coding region of the VAPB gene, and it occurred within exon 4. It was found in three patients out of 125. The frequency of the detected exon variation in the VAPB gene was not significantly different between patients and controls. In conclusion, our study suggests that VAPB mutations are not a common cause of adult-onset SALS.
To determine whether proton magnetic resonance (MR) spectroscopic imaging is a sensitive technique for defining tumor extent and assessing response of cerebral lymphoma to therapy.
Four hydrogen-1 MR ...spectroscopic imaging studies were performed in a patient with non-Hodgkin lymphoma (NHL) before, during, and after radiation therapy and at follow-up at 33 months after diagnosis of the recurrence of disease. The patient had a single, large lesion in the brain and underwent hyperfractionated radiation therapy for 4 weeks. A series of MR images was also obtained.
The pretreatment study showed a lesion with a distinct spectral pattern: marked elevation of choline and lipids and great reduction of creatine and N-acetylaspartate. During and after treatment, H-1 MR spectroscopic images depicted a progressive reduction of the abnormal choline and lipid signals. Thirty-three months after treatment, multiple-section H-1 MR spectroscopic images showed normal spectral patterns in all sections examined.
H-1 MR spectroscopy may contribute to the neuroradiologic evaluation of NHL and, in particular, may be useful in monitoring therapeutic response.
PDF
