Developmental Neuropathology

Friede, Reinhard L.

doi:10.1007/978-3-642-73697-1

Cited by 397 publications

(240 citation statements)

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“…This early cerebellar atrophy may reflect a primary involvement of the cerebellar cortex itself, thus supporting the possibility of granular layer involvement. 6 MLD is usually considered a storage disease involving primarily oligodendrocytes, resulting in demyelination. However, several elements argue for an associated neuronal disease.…”

Section: Mr Spectroscopymentioning

confidence: 99%

“…In particular, there has been little study of the GM involvement suggested in the literature. 6 Indeed, in the MLD mouse model as in patients, sulfatide storage occurs mainly in glial cells but also in neurons. 7,8 The aim of this study was, therefore, to perform a detailed qualitative and semiquantitative analysis of MRI brain lesions in patients with MLD at diagnosis and follow-up, to better understand the natural history of the disease.…”

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confidence: 99%

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Toward a Better Understanding of Brain Lesions during Metachromatic Leukodystrophy Evolution

Martin¹,

Sevin²,

Lazarus

et al. 2012

AJNR Am J Neuroradiol

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Section: Mr Spectroscopymentioning

confidence: 99%

mentioning

confidence: 99%

Toward a Better Understanding of Brain Lesions during Metachromatic Leukodystrophy Evolution

Martin¹,

Sevin²,

Lazarus

et al. 2012

AJNR Am J Neuroradiol

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“…The rapid initial growth of the brain exceeds that of other body tissues. At 6th month gestation, it comprises 21% of total body weight and 15% at term (Friede, 1989). The brain weight more than doubles during the first 9 postnatal months to reach over 90% of the adult weight by the 6th year.…”

Section: Introductionmentioning

confidence: 99%

The role and potential of sialic acid in human nutrition

2003

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Sialic acids are a family of nine-carbon acidic monosaccharides that occur naturally at the end of sugar chains attached to the surfaces of cells and soluble proteins. In the human body, the highest concentration of sialic acid (as N-acetylneuraminic acid) occurs in the brain where it participates as an integral part of ganglioside structure in synaptogenesis and neural transmission. Human milk also contains a high concentration of sialic acid attached to the terminal end of free oligosaccharides, but its metabolic fate and biological role are currently unknown. An important question is whether the sialic acid in human milk is a conditional nutrient and confers developmental advantages on breast-fed infants compared to those fed infant formula. In this review, we critically discuss the current state of knowledge of the biology and role of sialic acid in human milk and nervous tissue, and the link between sialic acid, breastfeeding and learning behaviour.

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“…Nodular gray matter heterotopia is characterized by the periventricular location of neurons close to the subependymal germinal matrix (4), consisting of round nodular masses of unlayered normal neurons and glial cells, which cause a bulging in the ventricular walls (2, [4][5][6].…”

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confidence: 99%

Periventricular Nodular Heterotopia: Epileptogenic Findings

Battaglia¹,

Granata²,

Farina³

et al. 1997

Epilepsia

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Summary: Purpose:We studied 17 patients with periventricular nodular heterotopia (PNH) to further investigate the electroclinical pictures and semiology of the associated seizures.Methods: PNH was diagnosed by means of magnetic resonance imaging (MRI). The patients' clinical and familial histories were carefully analyzed, and their electroclinical features and course of epilepsy followed for periods ranging from 10 months to 22 years. The electroclinical data were compared with those of previously reported PNH cases.Results: The patients were subdivided into those with bilateral (7) and unilateral (10) PNH. The former were mainly characterized by structural abnormalities in the posterior cerebral fossa and multiple seizure types; the latter were characterized by the paratrigonal location of the malformation and, frequently, by elementary seizures with a visual or auditory onset. Focal seizures were drug resistant in most cases. The interictal EEG abnormalities were always focal and consistent with the location of the PNH. A previously unreported photic driving of posterior background activity was observed in all patients and was always consistent with the PNH location.Conclusions: Our present findings and previously reported data show that bilateral and unilateral PNH cases are different in their morphological and electroclinical features and may be determined by different etiologies. The female predominance, frequent familial occurrence, and positive family history for epilepsy suggest that genetic factors may be involved in the genesis of bilateral and symmetrical PNH, whereas the presence of prenatal risk factors and its location in the watershed paratrigonal area suggest that vascular mechanisms may determine unilateral PNH.

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Developmental Neuropathology

Cited by 397 publications

References 0 publications

Toward a Better Understanding of Brain Lesions during Metachromatic Leukodystrophy Evolution

Toward a Better Understanding of Brain Lesions during Metachromatic Leukodystrophy Evolution

The role and potential of sialic acid in human nutrition

Periventricular Nodular Heterotopia: Epileptogenic Findings

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