PMID: 7546006May 1, 1995Paper

Proton magnetic resonance spectroscopy of brain in congenital myotonic dystrophy

Pediatric Neurology
T HashimotoY Kuroda

Abstract

Volume selective proton magnetic resonance spectroscopy of brain was performed on a 1.5 T magnet in 5 patients with congenital muscular dystrophy and compared to the results in 46 healthy children and 1 healthy adult. Peaks of N-acetyl aspartate, choline, and creatine but not lactate, were observed in both groups on proton magnetic resonance spectroscopy. Spectroscopy of controls revealed an increase with advancing age in the ratio of N-acetyl aspartate/choline and N-acetyl aspartate/creatine and a decrease in the choline/creatine ratio. In patients with congenital myotonic dystrophy, the N-acetyl aspartate/choline ratio did not increase with advancing age, but the N-acetyl aspartate/creatine ratio did. The choline/creatine ratio decreased with advancing age, which matched the results of controls. At any age older than 4 years, the N-acetyl aspartate/choline and N-acetyl aspartate/creatine ratios were lower in patients with congenital myotonic dystrophy than in controls. The choline/creatine ratio did not differ between congenital myotonic dystrophy and controls. These results suggest that in patients with congenital myotonic dystrophy N-acetyl aspartate decreases and there exists a developmental disorder of neurons in brain.

References

May 18, 1992·Science·C T CaskeyD L Nelson
Jul 1, 1992·Journal of Computer Assisted Tomography·D M YousemR I Grossman
Jan 1, 1992·Neurology·M FiorelliY Samson
Jan 1, 1991·Pediatric Neurology·A Garcia-AlixJ Quero
Apr 1, 1990·Magnetic Resonance in Medicine : Official Journal of the Society of Magnetic Resonance in Medicine·U Klose
Nov 1, 1990·Journal of Computer Assisted Tomography·C J PedenL M Dubowitz
Sep 1, 1987·The Journal of Pediatrics·R RegevV Dubowitz
Dec 1, 1966·Brain : a Journal of Neurology·N P Rosman, B A Kakulas
Nov 1, 1993·Archives of Neurology·A PizzutiC T Caskey
Jun 1, 1993·Developmental Medicine and Child Neurology·C J PedenL M Dubowitz

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Citations

Jan 30, 2008·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Anne-Berit EkströmElisabet Wentz
Aug 5, 2017·Neurology·Kees OkkersenBaziel G M van Engelen
May 6, 2017·Frontiers in Cellular Neuroscience·Genevieve Gourdon, Giovanni Meola
Sep 7, 2018·Frontiers in Neurology·Martina MinneropCornelia Kornblum

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