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Article
Amyloidosen in der Neuropathologie
Amyloiderkrankungen spielen in der Neuropathologie sowohl im Autopsie- als auch im Biopsiewesen eine wichtige Rolle. Die Amyloidosen des Zentralnervensystems sind meist durch Ablagerungen von β-Amyloid gekennz...
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Article
Morbus Fabry
Der Morbus Fabry ist eine x-chromosomal vererbte, lysosomale Stoffwechselerkrankung, die auf einem Mangel des Enzyms α-Galaktosidase A beruht und mit einer pathologischen Sphingolipidspeicherung vor allem in E...
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Article
Keratopathie als Zeichen einer multifokalen kongenitalen sensiblen Polyneuropathie Eine Fallbeschreibung
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Article
Introduction
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Article
Morphological aspects of the neuronal ceroid lipofuscinoses
Morphological aspects of the neuronal ceroid lipofuscinoses (NCL) encompass two main features: loss of nerve cells and accumulation of autofluorescent lipopigments within cellular compartments. The former req...
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Article
Molecular, oncologic, and therapeutic spectrum of von Hippel-Lindau disease
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Article
Hinweise auf einen gemeinsamen Ursprung einer deutschen und amerikanischen Familie mit hereditärer Amyloidneuropathie Typ II
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Article
Progressive cerebellar ataxia in juvenile GM2-gangliosidosis type Sandhoff
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Article
The monocyte-macrophage system is affected in lysosomal storage diseases: an immunoelectron microscopic study
Studying peripheral blood mononuclear cells (PBMCs) has become an important diagnostic tool in lysosomal storage diseases. Previous studies revealed that B and subclasses of T lymphocytes participate in the s...
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Article
Friedreich’s ataxia with isolated vitamin E deficiency: a neuropathological study of a Tunisian patient
The neuropathological findings in a Tunisian patient with Friedreich’s ataxia with vitamin E deficiency are reported. The main histological changes are: (1) spinal sensory system demyelination with neuronal a...
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Article
Glucocorticoid-sensitive hereditary inclusion body myositis
We report a hereditary muscle disorder with features of inclusion body myositis (IBM) in two adult sisters with slowly progressive asymmetrical muscle weakness. The findings of light microscopic and ultrastruc...
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Chapter and Conference Paper
Pathomorphology of hereditary sensory neuropathies
Currently, the hereditary sensory neuropathies (HSN) — because of the involvement of the autonomic system recently called HSAN — comprise types I–V predicated on clinical differences. This classification of HS...
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Article
Morphology of experimentally denervated and reinnervated rat facial muscle I. Histochemical and histological findings
The morphological changes in rat facial muscles were evaluated after permanent denervation and were compared with findings after immediate reinnervation. Thirty rats underwent transection of the left and right...
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Chapter and Conference Paper
Effects of Electrostimulation Therapie: Enzyme-Histological and Myometric Changes in the Denervated Musculature
Electrostimulation therapy is a widely accepted method applied to denervated skeletal muscles in order to prevent or retard muscular atrophy [1,4,13,24,25]. Following the proposal made by Duchenne in 1855, ele...
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Chapter and Conference Paper
Morphologic Studies on Human and Rodent Facial Muscles
Denervation of skeletal muscle fibers results in their atrophy. Early morphologic consequences of acutely denervated human muscle fibers are largely unknown. Conversely, morphologic features of human denervate...
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Article
Protracted juvenile neuronal ceroid-lipofuscinosis
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Article
Human forms of neuronal ceroid-lipofuscinosis (Batten disease): Consensus on diagnostic criteria, Hamburg 1992
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Article
Amyloidoma of the gasserian ganglion as a cause of symptomatic neuralgia of the trigeminal nerve: Report of three cases
Three cases of symptomatic neuralgia of the trigeminal nerve due to an amyloidoma in the gasserian ganglion are described. The correct diagnosis was not made prior to histological examination of the surgical b...
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Article
Human ontogenesis
Naturally occurring muscle cell death in normal human fetal muscle was examined to determine the timing and structural differences with respect to muscle maturity. Two types of degenerative changes in developi...
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Article
Topographic heterogeneity of amyloid B-protein epitopes in brains with various forms of neuronal ceroid lipofuscinoses suggesting defective processing of amyloid precursor protein
To verify our hypothesis of defective protease inhibitor domains that are encoded by abnormal processing of amyloid precursor protein (APP) in brains of patients with neuronal ceroid lipofuscinoses (NCL), immu...
