Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease

Brockmann, Knut; Dechent, Peter; Meins, Moritz; Haupt, M.; Sperner, J.; Stephani, Ulrich; Frahm, Jens; Hanefeld, F.

doi:10.1007/s00415-003-0995-2

Cited by 60 publications

(26 citation statements)

References 41 publications

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“…21,30,32 Interestingly, this mechanism has been proposed in recent 1 H-MRSI studies to explain WM accumulation of Lac in different forms of leukodystrophies. 8,34 However, an impaired mitochondrial metabolism of the brain parenchyma cannot be definitely ruled out, although we did not observe morphological mitochondrial alterations in the peripheral nerve. Therefore, our 1 H-MRSI data, in agreement with pathological findings, suggest that brain WM degeneration in APBD may result from tissue damage involving both axons and myelin.…”

Section: Discussioncontrasting

confidence: 46%

Adult polyglucosan body disease: Proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene

et al. 2008

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Adult polyglucosan body disease (APBD) is characterized by the accumulation of insoluble glucose polymers within the central and peripheral nervous systems. A common missense mutation in the glycogen branching enzyme (GBE1) gene has been identified in Ashkenazi patients with APBD. We report on a non-Jewish patient with APBD on whom we performed proton magnetic resonance spectroscopic imaging of the brain. GBE activity in fibroblasts was markedly reduced, and a novel heterozygous mutation was identified in the GBE1 gene. Our findings widen the spectrum of APBD genotypes, underline the importance of performing GBE analysis in all APBD patients, and suggest that brain white matter degeneration in APBD may result from tissue damage involving axons and myelin.

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Section: Discussioncontrasting

confidence: 46%

Adult polyglucosan body disease: Proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene

et al. 2008

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Section: Discussionmentioning

confidence: 99%

“…A number of studies in mice and humans have found a correlation between astrocytosis and elevated C/C ratios (37)(38)(39)(40). Genetic disorders of astrocytes associated pathologically with astrocytosis displayed increased C/C ratios on MRS (38). The grade of malignant brain tumors is reflected in the content of astroglial elements relative to neurons and correlated with the C/C ratio in vivo (39) and in vitro (40).…”

Section: Discussionmentioning

confidence: 99%

Ablation of D1 dopamine receptor-expressing cells generates mice with seizures, dystonia, hyperactivity, and impaired oral behavior

Gantois

Fang

Jiang

et al. 2007

Proc. Natl. Acad. Sci. U.S.A.

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Huntington's disease is characterized by death of striatal projection neurons. We used a Cre/Lox transgenic approach to generate an animal model in which D1 dopamine receptor (Drd1a)؉ cells are progressively ablated in the postnatal brain. Striatal Drd1a, substance P, and dynorphin expression is progressively lost, whereas D2 dopamine receptor (Drd2) and enkephalin expression is up-regulated. Magnetic resonance spectroscopic analysis demonstrated early elevation of the striatal choline/creatine ratio, a finding associated with extensive reactive striatal astrogliosis. Sequential MRI demonstrated a progressive reduction in striatal volume and secondary ventricular enlargement confirmed to be due to loss of striatal cells. Mutant mice had normal gait and rotarod performance but displayed hindlimb dystonia, locomotor hyperactivity, and handling-induced electrographically verified spontaneous seizures. Ethological assessment identified an increase in rearing and impairments in the oral behaviors of sifting and chewing. In line with the limbic seizure profile, cell loss, astrogliosis, microgliosis, and down-regulated dynorphin expression were seen in the hippocampal dentate gyrus. This study specifically implicates Drd1a؉ cell loss with tail suspension hindlimb dystonia, hyperactivity, and abnormal oral function. The latter may relate to the speech and swallowing disturbances and the classic sign of tongueprotrusion motor impersistence observed in Huntington's disease. In addition, the findings of this study support the notion that Drd1a and Drd2 are segregated on striatal projection neurons. striatum ͉ Cre ͉ Huntington's disease T he nigrostriatal pathway projects from the midbrain substantia nigra pars compacta to innervate the dorsal striatum. Dopamine is released from dopaminergic terminals in the striatum to regulate motor activity and eating behavior (1). Early studies suggested that dopamine D1 (Drd1a) and D2 receptors (Drd2) are segregated on striatal projection neurons; the Drd1a is expressed on substance P and dynorphin-positive striatal neurons, which project directly to the substantia nigra pars reticulata/entopeduncular complex (known as the direct pathway), whereas Drd2 is preferentially expressed on enkephalin-positive striatopallidal projecting neurons (2). Neurons within the globus pallidus then project to the subthalamic nucleus, which in turn relays to the substantia nigra pars reticulata/entopeduncular complex (known as the indirect pathway). Dopamine also modulates the activity of glutamatergic corticostriatal input on striatal projection neurons.Idiopathic Parkinson's disease is characterized by the death of dopaminergic neurons; however, rare Parkinsonian syndromes have been identified in which the defect is associated with cell death in the dopamine-responsive neurons in the striatum (3-6). Huntington's disease (HD) (7-10), a neurodegenerative condition with motor, cognitive, and psychiatric disturbances, also involves death of dopamine receptor-expressing striatal projection neurons. Several ...

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“…In this case, intracellular NAA reaches very high levels (Dezortova and Hajek 2008), yet this is not an indication of increased neuronal activity. On the other hand, in patients with Alexander disease, the signal of NAA is decreased (Brockmann et al 2003) to such an extent that, in one particular case, the NAA signal in the spectra of a child's brain cortex was absent altogether. The child was mentally impaired, but still she had some brain activity (Martin et al 2001).…”

Section: N-acetylaspartate and N-acetylaspartylglutamatementioning

confidence: 99%

Proton magnetic resonance spectroscopy and its diagnostically important metabolites in the brain

Bittšanský

Výbohová²,

Dobrota³

2012

gpb

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Abstract. This review provides a brief summary of the basic principles of proton magnetic resonance spectroscopy ( 1 H MRS) and its application in the human brain. We discuss the chemical structure, signal properties, biological function, normal spatial distribution and diagnostic potential of the most significant metabolites detectable in brain tissue: N-acetylaspartate, N-acetylaspartylglutamate, choline-containing substances, creatine, phosphocreatine, myo-inositol, glutamine and glutamate. We also present a few notes on the importance of proper spectral quantification and contemporary trends in 1 H MRS are presented.

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Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease

Cited by 60 publications

References 41 publications

Adult polyglucosan body disease: Proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene

Adult polyglucosan body disease: Proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene

Ablation of D1 dopamine receptor-expressing cells generates mice with seizures, dystonia, hyperactivity, and impaired oral behavior

Proton magnetic resonance spectroscopy and its diagnostically important metabolites in the brain

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