Proton magnetic resonance spectroscopy on childhood-onset dentatorubral-pallidoluysian atrophy (DRPLA). 1996

M Miyazaki, and T Hashimoto, and Y Yoneda, and M Tayama, and M Harada, and H Miyoshi, and N Kawano, and N Murayama, and I Kondo, and Y Kuroda
Department of Pediatrics, Tokushima University School of Medicine, Japan.

To evaluate brain dysfunction of childhood-onset dentatorubral-pallidoluysian atrophy (DRPLA), three children with progressive myoclonus epilepsy, who were diagnosed as having DRPLA by DNA analysis, for the first time, underwent a study of proton magnetic resonance spectroscopy (1H-MRS). 1H-MRS obtained from both the parietal and basal ganglia regions disclosed markedly reduced ratios of N-acetylaspartate to both choline and creatine. Especially regarding the basal ganglia region, the latter (ratio of N-acetylaspartate to creatine) closely correlated to severity of genetic abnormality, i.e. number of expanded CAG repeats, suggesting that the degree of neuronal loss in the region strongly depends on genetic factors. 1H-MRS must be a valuable tool to clarify the pathophysiology of DRPLA.

UI MeSH Term Description Entries
D008279 Magnetic Resonance Imaging Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques. Chemical Shift Imaging,MR Tomography,MRI Scans,MRI, Functional,Magnetic Resonance Image,Magnetic Resonance Imaging, Functional,Magnetization Transfer Contrast Imaging,NMR Imaging,NMR Tomography,Tomography, NMR,Tomography, Proton Spin,fMRI,Functional Magnetic Resonance Imaging,Imaging, Chemical Shift,Proton Spin Tomography,Spin Echo Imaging,Steady-State Free Precession MRI,Tomography, MR,Zeugmatography,Chemical Shift Imagings,Echo Imaging, Spin,Echo Imagings, Spin,Functional MRI,Functional MRIs,Image, Magnetic Resonance,Imaging, Magnetic Resonance,Imaging, NMR,Imaging, Spin Echo,Imagings, Chemical Shift,Imagings, Spin Echo,MRI Scan,MRIs, Functional,Magnetic Resonance Images,Resonance Image, Magnetic,Scan, MRI,Scans, MRI,Shift Imaging, Chemical,Shift Imagings, Chemical,Spin Echo Imagings,Steady State Free Precession MRI
D008297 Male Males
D004247 DNA A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine). DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA
D004831 Epilepsies, Myoclonic A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic. Idiopathic Myoclonic Epilepsy,Myoclonic Absence Epilepsy,Myoclonic Encephalopathy,Myoclonic Epilepsy,Symptomatic Myoclonic Epilepsy,Benign Infantile Myoclonic Epilepsy,Cryptogenic Myoclonic Epilepsy,Doose Syndrome,Dravet Syndrome,Early Childhood Epilepsy, Myoclonic,Early Childhood, Myoclonic Epilepsy,Encephalopathy, Myoclonic,Epilepsy, Early Childhood, Myoclonic,Epilepsy, Myoclonic, Early Childhood,Epilepsy, Myoclonic, Infantile,Epilepsy, Myoclonic, Infantile, Benign,Epilepsy, Myoclonic, Infantile, Severe,Epilepsy, Myoclonus,Infantile Severe Myoclonic Epilepsy,Myoclonic Astatic Epilepsy,Myoclonic Epilepsy, Benign Infantile,Myoclonic Epilepsy, Early Childhood,Myoclonic Epilepsy, Infantile,Myoclonic Epilepsy, Infantile, Benign,Myoclonic Epilepsy, Infantile, Severe,Myoclonic Epilepsy, Severe Infantile,Myoclonic Epilepsy, Severe, Of Infancy,Myoclonic Seizure Disorder,Severe Infantile Myoclonic Epilepsy,Severe Myoclonic Epilepsy Of Infancy,Severe Myoclonic Epilepsy, Infantile,Astatic Epilepsies, Myoclonic,Astatic Epilepsy, Myoclonic,Cryptogenic Myoclonic Epilepsies,Dravet Syndromes,Encephalopathies, Myoclonic,Epilepsies, Cryptogenic Myoclonic,Epilepsies, Idiopathic Myoclonic,Epilepsies, Infantile Myoclonic,Epilepsies, Myoclonic Absence,Epilepsies, Myoclonic Astatic,Epilepsies, Symptomatic Myoclonic,Epilepsy, Cryptogenic Myoclonic,Epilepsy, Idiopathic Myoclonic,Epilepsy, Infantile Myoclonic,Epilepsy, Myoclonic,Epilepsy, Myoclonic Absence,Epilepsy, Myoclonic Astatic,Epilepsy, Symptomatic Myoclonic,Idiopathic Myoclonic Epilepsies,Infantile Myoclonic Epilepsies,Infantile Myoclonic Epilepsy,Myoclonic Absence Epilepsies,Myoclonic Astatic Epilepsies,Myoclonic Encephalopathies,Myoclonic Epilepsies,Myoclonic Epilepsies, Cryptogenic,Myoclonic Epilepsies, Idiopathic,Myoclonic Epilepsies, Infantile,Myoclonic Epilepsies, Symptomatic,Myoclonic Epilepsy, Cryptogenic,Myoclonic Epilepsy, Idiopathic,Myoclonic Epilepsy, Symptomatic,Myoclonic Seizure Disorders,Myoclonus Epilepsies,Myoclonus Epilepsy,Seizure Disorder, Myoclonic,Seizure Disorders, Myoclonic,Symptomatic Myoclonic Epilepsies
D005260 Female Females
D005917 Globus Pallidus The representation of the phylogenetically oldest part of the corpus striatum called the paleostriatum. It forms the smaller, more medial part of the lentiform nucleus. Paleostriatum,Pallidum,Pallidums
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D001284 Atrophy Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes. Atrophies

Related Publications

M Miyazaki, and T Hashimoto, and Y Yoneda, and M Tayama, and M Harada, and H Miyoshi, and N Kawano, and N Murayama, and I Kondo, and Y Kuroda
November 2007, Rinsho shinkeigaku = Clinical neurology,
M Miyazaki, and T Hashimoto, and Y Yoneda, and M Tayama, and M Harada, and H Miyoshi, and N Kawano, and N Murayama, and I Kondo, and Y Kuroda
January 2000, Journal of neural transmission. Supplementum,
M Miyazaki, and T Hashimoto, and Y Yoneda, and M Tayama, and M Harada, and H Miyoshi, and N Kawano, and N Murayama, and I Kondo, and Y Kuroda
January 2005, Magnetic resonance in medical sciences : MRMS : an official journal of Japan Society of Magnetic Resonance in Medicine,
M Miyazaki, and T Hashimoto, and Y Yoneda, and M Tayama, and M Harada, and H Miyoshi, and N Kawano, and N Murayama, and I Kondo, and Y Kuroda
January 1999, Ryoikibetsu shokogun shirizu,
M Miyazaki, and T Hashimoto, and Y Yoneda, and M Tayama, and M Harada, and H Miyoshi, and N Kawano, and N Murayama, and I Kondo, and Y Kuroda
January 2001, The Journal of neuropsychiatry and clinical neurosciences,
M Miyazaki, and T Hashimoto, and Y Yoneda, and M Tayama, and M Harada, and H Miyoshi, and N Kawano, and N Murayama, and I Kondo, and Y Kuroda
November 2007, No to hattatsu = Brain and development,
M Miyazaki, and T Hashimoto, and Y Yoneda, and M Tayama, and M Harada, and H Miyoshi, and N Kawano, and N Murayama, and I Kondo, and Y Kuroda
January 1999, Ryoikibetsu shokogun shirizu,
M Miyazaki, and T Hashimoto, and Y Yoneda, and M Tayama, and M Harada, and H Miyoshi, and N Kawano, and N Murayama, and I Kondo, and Y Kuroda
April 1995, Nihon rinsho. Japanese journal of clinical medicine,
M Miyazaki, and T Hashimoto, and Y Yoneda, and M Tayama, and M Harada, and H Miyoshi, and N Kawano, and N Murayama, and I Kondo, and Y Kuroda
June 1989, The Japanese journal of psychiatry and neurology,
M Miyazaki, and T Hashimoto, and Y Yoneda, and M Tayama, and M Harada, and H Miyoshi, and N Kawano, and N Murayama, and I Kondo, and Y Kuroda
March 1997, Neuroscience letters,
Copied contents to your clipboard!