Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease - a new type of neuronal ceroid lipofuscinosis (CLN15)?

Homozygous mutation of TBC1 domain-containing kinase (TBCK) is the cause of a very recently defined severe childhood disorder, which is characterized by severe hypotonia, global developmental delay, intellectual disability, epilepsy, characteristic facies and premature death. The link between TBCK loss of function and symptoms in patients with TBCK deficiency disorder (TBCK-DD) remains elusive. Here we demonstrate for the first time the histopathological characteristics of TBCK deficiency consisting of 1) a widespread and massive accumulation of lipofuscin storage material in neurons of the central nervous system without notable neuronal degeneration, 2) storage deposits in few astrocytes, 3) carbohydrate-rich deposits in brain, spleen and liver and 4) vacuolated lymphocytes.

The Possible Role of Mast Cells and VEGF in Peritumoural Oedema of Secretory Meningioma.

Objective: Secretory meningiomas constitute a relatively rare subtype of meningiomas and present often with massive peritumoural oedema. From our previous report, a high number of mast cells were demonstrable in this subtype of meningiomas. The present study aimed to obtain more information about mast cell derived progangiogenic factors and mediators as well as VEGF receptors in secretory meningioma.

[Frontotemporal dementia].

Background: Among the primary degenerative dementias, frontotemporal dementia (FTD, Pick's disease) is very important along with Alzheimer's disease. The estimated prevalence is 15:100,000 in the 45- to 64-year-old population; thus, it appears that the FTD as a cause for so-called presenile dementia is nearly as common as Alzheimer's disease.

Case Report: The case of a 52-year-old woman is described that presented with slowly progressive lack of concentration and disturbance of memory.

Failure to improve the effect of thrombolysis by memantine in a rat embolic stroke model.

Objectives: Partial and delayed recanalization is a regular finding after thrombolysis in stroke patients who may benefit from additional therapy with neuroprotectants. To translate this scenario into an experiment, memantine was combined with thrombolysis in an embolic stroke model and tissue outcome was assessed in terms of complete and incomplete damage.

Methods: Tissue plasminogen activator (tPA, 5 mg/kg, b.

Clinicopathologic features of aggressive meningioma emphasizing the role of radiotherapy in treatment.

Background And Purpose: Although meningiomas are typically benign, they occasionally behave in an aggressive fashion and carry a less favorable prognosis. The aim of this study was to review the clinical, radiologic and histopathologic features of these aggressive variants as well as the outcome after multimodality therapy.

Patients And Methods: 16 patients with atypical meningiomas (n = 11) and anaplastic meningiomas (n = 5) were treated in the Departments of Neurosurgery and Radiation Oncology at the University Hospital of Philipps University Marburg, Germany, between 1997 and 2003.

Two novel cell specific receptor proteins, CRLR and CD 117 in human glial tumors.

Objective: CRLR (calcitonin receptor-like receptor) and CD 117, the gene product of c-kit have been shown to be expressed in cells of glial tumors, especially in those with higher malignancy. Here we report the distribution of these peptides in various cellular compartments within those tumors.

Material: Both receptor proteins have been investigated in 95 glial tumor biopsies of different grades.

The cardiac isoform of alpha-actin in regenerating and atrophic skeletal muscle, myopathies and rhabdomyomatous tumors: an immunohistochemical study using monoclonal antibodies.

The two sarcomeric isoforms of actins, cardiac and skeletal muscle alpha-actin, are highly homologous so that their immunohistochemical distinction is extremely difficult. Taking advantage of monoclonal antibodies distinguishing the two conservative amino acid exchanges near the aminoterminus, we have performed an extended immunohistochemical analysis of the cardiac alpha-actin (CAA) isoform in normal, regenerating, diseased and neoplastic human muscle tissues. Intense and uniform CAA staining is seen in fetal and adult myocardium and in fetal skeletal muscle while adult skeletal muscle is essentially negative, except for muscle spindle myocytes and a few scattered muscle fibres with overall reduced diameter.

Comparative experimental study of argon plasma and bipolar coagulation techniques.

Background: Argon plasma coagulation (APC) is based on the principle of ionised argon creating conductive plasma between an activating electrode and tissue surface and is used as an effective alternative coagulation technique in various surgical disciplines. This trial aims to compare thermal injury in rat brain caused by APC and conventional bipolar coagulation technique.

Methods: A controlled study design with constant power setting and application time was established.

Biological activity of paediatric cerebral cavernomas: an immunohistochemical study of 28 patients.

Objective: According to the hypothesis that paediatric cerebral cavernomas may have different biological activity compared to adult cavernomas, immunohistochemical analysis was used to elucidate the biological nature of paediatric cavernomas.

Patients And Methods: We examined the histological features and the proliferative and angiogenic capacity of the tissue specimens acquired from 28 paediatric patients. Normal paediatric brain tissues obtained from paediatric autopsy cases were used as a control group.

Enlarged perivascular spaces mimicking multicystic brain tumors. Report of two cases and review of the literature.

The authors present two cases in which enlarged Virchow-Robin spaces were located in the basal ganglia and the thalamomesencephalic region. The incidence of such huge cystic lesions is extremely rare. The expanding nature of these lesions, demonstrated by the patients' progressive symptoms due to compression of the adjacent brain parenchyma and obstructive hydrocephalus, mimicked that of brain tumors.

Secretory meningioma: immunohistochemical findings and evaluation of mast cell infiltration.

Secretory meningiomas constitute a relatively rare subtype of meningiomas, accounting for only 1.1% at our institution, with a 6:1 predominance of female patients. This study aimed to obtain more information about the immunohistochemical characteristics of this histological entity, and to analyse the effects of histological factors such as the presence of mast cells on the radiological evidence of surrounding tumour oedema that frequently occurred in this subtype of meningioma.

Expression of p53 and p21 in primary glioblastomas.

Background And Purpose: Primary glioblastomas (GBMs) are highly radioresistant, and in contrast to secondary GBMs, they bear wild-type (wt) p53 protein, which is stabilized in a proportion of these tumors. Therefore, it was investigated in vivo whether p53 expression has prognostic value in patients undergoing radiochemotherapy. Additionally, the authors tried to identify, in vitro, subgroups of primary GBM with different susceptibilities to irradiation, on the basis of their p53 and p21 responses to ionizing radiation.

Ganglioside (GD2) expression and intermediary filaments in astrocytic tumors.

The search of proliferation markers in astrocytic tumors that may serve as targets for therapeutic interventions, is in full progress. Membrane-bound signal transducers for growth factors are amongst the substances of interest. Gangliosides are lipid-sugar compounds localized on the cell membrane that are thought to modify pertinent signals and, therefore, may influence a variety of functions in normal and pathologic conditions including those that act upon tumor growth.

Argon plasma coagulation (APC) in brain tumor surgery: experimental study and clinical experiences.

Objective: The present study aims to provide preliminary results of the thermal effects on rat brain tissue after argon plasma coagulation (APC). It also presents and discusses the clinical experiences in the treatment of brain tumor using APC.

Materials And Methods: A controlled study of APC in the rat brain was conducted.

Primary and transplanted ENU induced rat tumors in neurooncology.

In neurooncology transplanting, tumors can be used for many purposes e.g. to solve questions concerning the etiology and pathogenesis of such tumors or their management.

The immunohistochemical expression of calcitonin receptor-like receptor (CRLR) in human gliomas.

Background: Gliomas are the most common primary tumours of the central nervous system and exhibit rapid growth that is associated with neovascularisation. Adrenomedullin is an important tumour survival factor in human carcinogenesis. It has growth promoting effects on gliomas, and blockade of its actions has been experimentally shown to reduce the growth of glioma tissues and cell lines.

[Pigmented form of orthochromatic leukodystrophy].

The pigmentary type of orthochromatic leukodystrophy (van Bogaert-Nyssen disease) is a hardly known neurological disorder usually with late onset that is very difficult to diagnose in vivo. Neuropathologically, the disorder features noninflammatory demyelination and the presence of pigmented macrophages and astrocytes that may contain iron. Clinically, van Bogaert-Nyssen disease can lead to death within a few years and is characterized by dementia, psychiatric abnormalities, epileptic seizures, spastic pareses, and occasionally extrapyramidal motor symptoms.

Glycosphingolipid component profiles or human gliomas--correlation to survival time and histopathological malignancy grading.

Background: Glycosphingolipids (GSL) are expressed on the surface of neuroectodermal cells. The correlation of a variety of distinct GSL with different primary brain tumors has been demonstrated. Three distinct GSL-component profiles (GSL-types I, II and III) of human gliomas have been defined by our group.

Rupture of an internal carotid artery aneurysm during angiography with leakage of contrast medium via an external ventricular drain.

With a ruptured intracranial aneurysm producing subarachnoid haemorrhage (SAH) cerebral angiography is currently used for identification of the affected vessel. Aneurysm rerupturing is one of the more serious complications of cerebral angiography and has been frequently described. We report a 61-year-old man who presented with SAH who had rerupture of a large aneurysm of the internal carotid artery during angiography.

Is there a final common pathway in mitochondrial encephalomyopathies? Considerations based on an autopsy case of Kearns-Sayre syndrome.

A case of Kearns-Sayre syndrome (KSS) diagnosed 18 years prior to death due to stroke and heart failure with postnatal onset was followed over 15 years and confirmed by postmortem examination. Within the brain, an old cystic infarction of the left hemisphere was found. Other features included white matter gliosis and cerebellar atrophy.

Intraspinal pannus formation at C6 in a patient with rheumatoid arthritis causing severe cervical cord compression. A case report.

We report a rare case of cervical cord compression caused by intraspinal pannus formation at C6 in a patient with long-term rheumatoid arthritis. No atlantoaxial abnormalities were seen. The imaging findings are presented and the pathology discussed.

Molecular characterization of desmosomes in meningiomas and arachnoidal tissue.

Intercellular junctions morphologically identical to epithelial desmosomes are known structures in meningiomas and arachnoidal tissue. Desmoplakin as one of the desmosomal plaque components has proven to be a reliable marker for diagnosis of meningeal tumors. Here we demonstrate by immunofluorescence microscopy, immunoblot and reverse transcription-PCR reactions that cells of arachnoidal tissue, of diverse meningioma subtypes and of a meningioma-derived cell line contain the full complement of the typical desmosomal proteins desmoplakin (DP), plakophilin 2 (PP2), desmocollin 2 (Dsc2) and desmoglein 2 (Dsg2).

Isolated paramedullary hemangioblastoma originating from the first cervical nerve root: case report.

Study Design: A retrospective case of an isolated paramedullary hemangioblastoma originating from the first cervical root is reported.

Objective: To describe an uncommon type of spinal hemangioblastoma and its operative treatment.

Summary Of Background Data: Spinal hemangioblastoma, rare finding accounting for approximately 1.