Intracerebral distribution of mitochondrial abnormalities in 21 cases of infantile spongy dystrophy

Paulus, Werner; Peiffer, J.

doi:10.1016/0022-510x(90)90116-5

Cited by 27 publications

(9 citation statements)

References 54 publications

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“…These neuropathological findings are compatible with so-called Alper's syndrome (Jellinger & Seitelberger 1970, Paulus & Peiffer 1990, which, however, may be a heterogeneous group of diseases of the gray matter, usually with a later onset.…”

Section: Discussionsupporting

confidence: 64%

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome)

et al. 1991

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We describe 14 patients, from 11 families, who have a progressive encephalopathy with early onset. The clinical signs of the disease are severe hypotonia, convulsions with hypsarrhythmia, profound mental retardation, hyperrcflexia, transient or persistent edema, and optic atrophy. These findings and the characteristic dysmorphic features allow recognition of these patients, although no basic metabolic defect has been found. Microcephaly and atrophy of the brain develop, especially in the cerebellar and brain stem areas. An autosomal recessive mode of inheritance is likely.

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Section: Discussionsupporting

confidence: 64%

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome)

et al. 1991

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“…Moreover, cytotoxic cell edemas are present . This leads to spongiform changes in the striatum, dentate nucleus, and cortical areas …”

Section: Cellular Pathophysiology and Pathoanatomy In The Nervous Systemmentioning

confidence: 99%

Morphological and functional imaging in neurological and non‐neurological Wilson's patients

Hermann

2014

Annals of the New York Academy of Sciences

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Wilson's disease causes disturbances of the central nervous system, affecting it both directly through copper toxicity and indirectly subject to a copper-induced hepatopathy, resulting in morphological and physiological changes in brain structures that can be captured by means of magnetic resonance imaging (MRI), (123)I-β-CIT (2β-carbomethoxy-3β (4-iodophenyl)tropane)-SPECT (single photon emission computed tomography), (123)I-IBZM (benzamide)-SPECT and [(18)F]FDG -PET (fluorodeoxyglucose-positron emission tomography). MRI can reveal even slight morphological changes in non-neurological Wilson's patients. More marked findings in neurological Wilson's patients become evident in T1- and T2-weighted MRI. T1-weighted MRI predominantly detects atrophic changes, whereas T2-weighted MRI regularly records signal changes in the putamen. With the aid of these three nuclear-medicine examinations, nigrostriatal and metabolic disturbances are identified in neurological Wilson's patients only. Sufficient decoppering therapy prevents progression and even tends to improve symptoms. A correlation between any of the imaging findings in patients with the genetic phenotype and the incidence of the most common mutation H1069Q (homozygote or compound heterozygote) or other mutations could not be substantiated.

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“…In addition, a decrease in the NAA concentration was reported in ischemic and traumatic brain injuries (9,10). In contrast, NAA is known to accumulate in Canavan disease, which is characterized by spongy degeneration of white matter due to a deficiency of aspartoacylase (11,12).…”

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confidence: 99%

Activation by N‐Acetyl‐l‐Aspartate of Acutely Dissociated Hippocampal Neurons in Rats via Metabotropic Glutamate Receptors

et al. 2003

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Summary:Purpose: We previously reported that an increase in the N-acetyl-L-aspartate (NAA) level due to the lack of aspartoacylase gene was found in the brain of the tremor rat (tm/tm), which is a mutant with a causative gene named tm that shows epileptic seizures. Therefore, NAA is suggested to be one of the factors involved in the induction of epileptic seizures. Patchclamp studies were performed to determine whether NAA produces an excitatory effect on acutely dissociated rat hippocampal neurons.Methods: Acutely dissociated hippocampal neurons were prepared from normal Wistar rats aged 3-4 weeks. NAA-induced currents were investigated by using the whole-cell voltage-clamp recording technique.Results: Application of NAA at concentrations of 100 nM to 1 mM through a U-tube for 2 s produced an inward current in a concentration-dependent manner at a holding potential of -60 mV. When the current-voltage relation was examined, the reversal potential of the NAA-induced current was found to be ∼0 mV. The NAA-induced current was inhibited by bath application of the metabotropic glutamate receptor (mGluR) antagonist (±)-α-methyl-4-carboxyphenylglycine (MCPG) and by intracellular application of guanosine 5 -O-(2-thiodiphosphate) (GDP-βS), a nonhydrolyzable GDP analogue. However, the NAA-induced current remained unaffected by glutamic acid diethyl ester, a non-N-methyl-D-aspartate (NMDA)-subtype ionotropic glutamate receptor antagonist, or the voltage-dependent ion channel blockers tetrodotoxin, CdCl 2 , and tetraethylammonium-chloride. Conversely, the mGluR agonist, trans-(1S,3R)-1-amino-1,3-cyclopentanedicarboxylic acid (ACPD) also induced an inward current, with a reversal potential of 0 mV. The ACPD-induced current also was inhibited by MCPG.Conclusions: These results suggest that NAA acts on the G protein-coupled mGluRs to induce an inward current that results in excitation of the neurons, thereby contributing to the occurrence of epileptic seizures. Key Words: N-Acetyl-Laspartate (NAA)-Hippocampal neuron-Patch clamp-NAAinduced current-Metabotropic glutamate receptor (mGluR).Next to glutamate, N-acetyl-L-aspartate (NAA) is the second most abundant free amino acid derivative in the mammalian central nervous system and is present in the brain in high concentrations (1). NAA is found predominantly within the cellular matrix, with very little in extracellular fluid, within the nerve cells. Approximately 40 and 60% of NAA is present in the nerve-ending mitochondrial fraction and the soluble portion of the cell, respectively (2). NAA is synthesized from L-aspartate and acetylCoA by N-acetyltransferase or liberated by hydrolyzation of N-acetylaspartyl-glutamate (NAAG) in the brain mitochondria. NAA, transported to the cytosol from mitochondria, is hydrolyzed by aspartoacylase into aspartate

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Intracerebral distribution of mitochondrial abnormalities in 21 cases of infantile spongy dystrophy

Cited by 27 publications

References 54 publications

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome)

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome)

Morphological and functional imaging in neurological and non‐neurological Wilson's patients

Activation by N‐Acetyl‐l‐Aspartate of Acutely Dissociated Hippocampal Neurons in Rats via Metabotropic Glutamate Receptors

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