D H Gutmann — Page 8 | PubMed Health

PubMedDate not supplied

Establishing priorities in neurofibromatosis research: a workshop summary.

Progress in understanding the biology of the neurofibromatoses (NF1 and NF2) offers hope for the development of new, effective methods of treatment. In May 2000, the National Institute of Neurological Disorders and Stroke (NINDS) hosted a workshop that included leading researchers and clinicians from the NF community. The goal of the meeting was to assess current knowledge and identify priorities for future research. Needs identified included the development of better animal models, further study of the function of the NF1 and NF2 genes, and investigation of the role of modifier genes. The participants agreed that it will also be important to define further the natural history of NF1 and NF2 and to develop an infrastructure to support clinical trials. They also discussed the possible creation of research consortia and NF centers to promote the integration of basic and clinical research.

Animals↗

PubMedDate not supplied

Integrated MR imaging and proton nuclear magnetic resonance spectroscopy in a family with an X-linked spastic paraparesis.

Seven members of a family with an X-linked spastic paraparesis syndrome were analyzed by MR imaging and stimulated echo, solvent-suppressed proton nuclear magnetic resonance spectroscopy. The MR scans of three symptomatic males and two asymptomatic females demonstrated abnormal signal in the supratentorial white matter. Each of these patients had a proton spectroscopic examination of a 2 X 2 X 2 cm voxel localized to the abnormal white matter of the centrum semiovale. The spectra demonstrated depression of N-acetyl aspartate/creatine, N-acetyl aspartate/choline, and creatine/choline ratios compared with normal control subjects. Additionally, these patients had abnormal elevations of amino acid resonances in the 2.1-3.0 ppm range. In a patient with symmetric white matter signal intensity abnormalities, an asymmetric spectroscopic study correlated with asymmetric symptoms. One asymptomatic family member with a normal MR study had abnormal metabolite ratio measurements. She was referred for further evaluation, since the proton spectrum suggested she may possess the affected gene. If the findings in this study are duplicated in other cases of hereditary dysmyelinating syndromes, we believe the integrated MR/proton nuclear magnetic resonance spectroscopy examination will be of benefit in evaluating and counseling families with familial dysmyelinating disorders.

Brain↗