Localized hypertrophic neuropathy (LHN).
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Female↗
Biomedical subjects
F Gullotta
Publications and source records attributed to F Gullotta.
Progressive multifocal leukoencephalopathy and gliomas in a HIV-negative patient.
A case of progressive multifocal leukoencephalopathy (PML) is reported, detected at autopsy of a 30-year-old patient. The clinical picture was characterized by a progressive course of mental deterioration and ingravescent neurological symptoms. The patient was HIV-negative. He died of bronchopneumonia, after a clinical course of 13 months. Autopsy disclosed pulmonary tuberculosis with involvement of regional lymph nodes. In the brain, besides numerous PML-foci of varying age and structure, a pleomorphic astrocytoma was found in the white matter of the right parietal lobe. In the brain stem glial proliferation resembling diffuse gliomatosis was also present. In situ hybridization revealed Papova-virus (JCV) in oligoglial nuclei, but not in neoplastic astrocytes. This is the third report on the concomitant occurrence of PML and glioma in man.
Adult↗
Adult polyglucosan body myopathy.
This report describes a sporadic late-onset myopathy in two unrelated adults which was marked by polyglucosan inclusions surrounded by abnormally structured mitochondria, the latter finding a localized, possibly reactive phenomenon. The polyglucosan material was characterized by a battery of histochemical and enzyme histochemical techniques; revealed common antigenicity with Lafora bodies, corpora amylacea and muscle fiber inclusions in types IV and VII glycogenoses; and contained ubiquitin. Additional lectin histochemical and associated digestion preparations disclosed the presence of alpha-glycosyl residues as apparently the sole carbohydrate component in polyglucosan bodies while the above mentioned common antigenicity with Lafora bodies and other inclusions suggests an additional, so far unidentified, protein component.
Atrophy↗
Age-related ubiquitin deposits in dystrophic neurites: an immunoelectron microscopic study.
Widespread neuritic dystrophy is a hallmark of Alzheimer's disease (AD) and, in a less severe form, of brain ageing in various mammalian species. By immunohistochemistry, diffuse dot-like staining for ubiquitin (Ubq), a polypeptide involved in the degradation of abnormal and short-lived proteins, has been associated with human brain ageing. The nature of the Ubq deposits was investigated by immunogold electron microscopy on autopsy samples from aged human and dog brains. Most of the dot-like staining was localized to the white matter and corresponded to myelinated dystrophic neurites filled by Ubq-labelled lysosomal dense bodies. They did not contain paired helical filaments or multilamellar bodies. A minority of Ubq deposits was represented by amorphous densities in focal enlargements of the myelin sheaths. Our findings show that the spectrum of Ubq changes in ageing brain is wider than formerly recognized, and support the hypothesis that a defective regulation of the lysosomal system might be involved in the pathogenesis of structural abnormalities both in the ageing brain and in Alzheimer's disease.
Aged↗
[Central nervous findings in neurofibromatosis].
Neurofibromatosis (NF) is subdivided into at least two different forms: NF-1, which is characterized by café-au-lait spots, cutaneous neurofibromas, Lisch nodules and osseous dysplasias, and NF-2, the hallmarks of which are bilateral acoustic neuromas. Neuropathological findings in 5 cases of NF-1 and 3 cases of NF-2 are presented.
Adult↗
[Lissencephaly--the spectrum of pathomorphologic findings].
The autopsy findings in 3 cases of type I ("classical") and 3 of type II ("hydrocephalic") lissencephaly are presented. The characteristic pathomorphology is described and some aspects about pathogenesis are considered.
Brain↗
[Acute atraumatic rhabdomyolysis].
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Adult↗
Multifactorial genesis of neuroradiological "leucoencephalopathies.".
Three cases of neuroradiologically diagnosed "leucoencephalopathy" are reported. Histopathological examination disclosed Binswanger's encephalopathy in Case 1, congophilic angiopathy with secondary leucoencephalopathy in Case 2, and HIV encephalopathy with secondary white matter changes in Case 3. These three cases demonstrate the unspecificity of neuroradiological findings in "leucoencephalopathy".
AIDS Dementia Complex↗
[Progressive subcortical gliosis].
A case of autoptically verified progressive subcortical gliosis (PSG) is reported. The 79 year old woman developed subacutely a right sided hemisyndrome and a cerebellar syndrome. Generalized action myoclonus of the left leg evolved into left sided Epilepsia partialis continua and dementia appeared. After a 6 month course the patient died of aspiration pneumonia. There was no indication of alcoholism or HIV-dementia neither clinically nor at autopsy. Morphologically the brain showed a diffuse proliferation of astrocytes in the subcortical white matter, thalamus, basal ganglia, brain stem and cerebellum. A severe neuronal dropout was found in medial thalamic neurons but Wernickes encephalopathy was ruled out. 21 cases of PSG confirmed by autopsy were found in the literature. Clinics, neuropathology and classification of PSG is discussed.
Aged↗
Ubiquitin in motor neuron disease: study at the light and electron microscope.
Several neurodegenerative diseases, including motor neuron disease (MND), are characterized by formation of abnormal cytoskeleton-derived inclusions which contain ubiquitin (Ubq). We have studied the distribution of Ubq in 26 cases of MND with light and electron microscopic immunocytochemistry. Ubiquitin-positive inclusions were found in neurons of anterior horns in most cases of amyotrophic lateral sclerosis (ALS) but were not present in other forms of MND. Ubiquitin immunoreactivity was observed in 10-15 nm intraneuronal filaments, which were not stained by antibodies to neurofilaments, and on dense bodies of dystrophic neurites throughout the neuropil of anterior horns and pyramidal tracts. Data analysis showed a trend toward lower percentage of Ubq-positive neurons in cases with longer duration of illness or lower number of neurons. A high percentage of Ubq-positive inclusions occurred in cases with an aggressive clinical course, suggesting that ubiquitination takes place at early stages of the disease.
Adult↗
[The CNS in AIDS and in asymptomatic HIV positive patients].
Neuropathological investigations were carried out on 166 autopsies of HIV-seropositive patients, with and without AIDS. Opportunistic infections and lymphomas were present in about 50% of cases; 65 patients were bearers of HIV-encephalopathy. HIV core protein p24 was detected in few mono- and multinucleated macrophages (HIV-cells), only in cases with HIV-encephalopathy. In the CNS of HIV-positive, asymptomatic patients no histological or immunohistochemical abnormalities were seen. These findings let suppose that AIDS-Dementia is a result of a late infiltration of HIV-infected macrophages from the bloodstream into the brain and not due to an impairment of neuronal or glial cells infected by HIV in the early stages of the disease.
AIDS Dementia Complex↗
[Progressive multifocal leukoencephalopathy (PML) in AIDS: morphological and topographical characteristics].
15 autopsy cases of PML in AIDS are presented. Frequent findings were: Very large, confluent PML-lesions (7 cases), lesions with prominent necrotic features (10 cases) and with marked perivascular mononuclear infiltrates (6 cases). In 9 cases additional PML-foci were seen in the cerebellum and/or the brain stem, and in 1 case there was even an exclusive involvement of those structures. Such characteristics regarding severity and topography of PML in AIDS, may be due to additional toxic factors. In 7 cases HIV-encephalopathy with multinucleated macrophages was present.
Acquired Immunodeficiency Syndrome↗
[Lhermitte-Duclos disease. Immunohistochemical findings and pathogenetic observations].
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Adult↗
Down's syndrome and Alzheimer's disease: dendritic spine counts in the hippocampus.
Samples of the hippocampus of four patients with Down's syndrome [two men aged 35 and 36 years with no evidence of Alzheimer's disease (AD) and two patients aged 47 and 55 years with associated AD] were obtained at post mortem and processed according to the rapid Golgi method. A significant reduction in the number of dendritic spines (DS) was found in the apical (middle, distal and oblique segments) and basilar (thick and thin segments) dendritic arbors of CA1 and CA2-3 pyramidal neurons in patients with Down's syndrome and no AD when compared to age-matched controls. An additional decrease of DS in every segment occurred in Down's patients with associated AD when compared to age-matched controls and Down's patients with no AD. In Down's syndrome (either associated or not to AD) thin basilar dendrites were the most severely involved; in AD patients CA1 pyramids were more severely affected than pyramidal neurons of the CA2-3 subfield.
Adult↗
Immunohistochemistry in childhood brain tumors: what are the facts?
In the past, contradictory results have been reported concerning the specificity of neuronal or glial cell markers. However, we have investigated this aspect in a large group of more than 550 brain tumors (among them 60 medulloblastomas). These contradictions can easily be explained by considering two basic facts. First, every neoplastic cell population, especially in embryonic tumors, diffusely infiltrates the brain tissue: non-neoplastic cells, intermingled with tumor cells, can therefore give rise to immunohistochemical and histogenetic misinterpretations. Second, different cell markers can be expressed by one and the same cell (e.g., GFAP, NSE, vimentin), making nosological interpretation of the tumor difficult, impossible, or at best rather subjective. Clear-cut marker positivity is mostly found in the differentiated tumors for which the nosological classification is already clear by the usual histological methods. Only synaptophysin seems to be a reliable marker for neurogenic cells. In embryonic brain tumors (so-called PNET), no correlations between the presence of a given cell marker and the biological behavior of the tumor have so far been detected.
Brain Neoplasms↗
[Paraneoplastic encephalomyelitis].
A case of parancoplastic encephalomyelitis detected in a 60 year old man with clinical signs of a polyradiculitis and anterior horn lesion is reported. Death occurred after 5 months due to cardiorespiratory insufficiency. On autopsy, an occult small cell carcinoma of the lung with metastases in the regional lymph nodes was found. The neuropathological examination revealed a polioencephalomelitis which primarily involved the limbic cortex, brain stem, spinal cord and posterior root ganglia. No virus material could be detected with immunhistochemical methods and in situ hybridisation. The inflammatory infiltrate was mainly composed of T-cells and to a lesser extent B-cells and mature macrophages. Literature and hypotheses concerning pathogenesis are reviewed.
Brain↗
Isolated lissencephaly: report of four patients from two unrelated families.
Lissencephaly is a brain malformation manifested by a smooth cerebral surface and caused by incomplete neuronal migration. Clinical sequellae include minor craniofacial changes (bitemporal hollowing, small jaw), severe mental retardation, and other neurological abnormalities. Patients with classical or type I lissencephaly and its sequellae but no other significant anomalies are classified as having isolated lissencephaly sequence. Possible causes of isolated lissencephaly sequence include ischemia or viral infection during the time of neuronal migration, microdeletion within the Miller-Dieker syndrome critical region in chromosome band 17p13.3, and Mendelian inheritance. The last is based on a report of a single family with three affected children in 1933. We report four patients with isolated lissencephaly sequence from two unrelated families who provide further support for autosomal (or possibly X-linked) recessive inheritance. In the first family, three brothers were affected. In the second, the parents are first cousins.
Brain↗
[Striato-nigral degeneration (SND): a multisystem atrophy?].
Two cases of striato-nigral degeneration are reported. In case 1 the female patient showed a Parkinson syndrome, cardiac arrhythmias and vasomotor disturbances. Morphologically mainly the putamen and substantia nigra revealed severe atrophic changes according to the restricted form of striato-nigral degeneration (SND). In case 2 there was a disorder of the upper and lower motor neuron in a female patient. Morphologically this case was an example of a multisystem atrophy with changes in the striato-nigral, olivo-ponto-cerebellar systems and spinal motor and autonomic neurons. These cases demonstrate the variability of the striato-nigral degenerations which are met with in two forms: a "pure" form as in case one and as a part of multisystem atrophies. This is underlined in a review of 69 literature cases, which also shows that SND, Shy-Drager syndrome and olivo-ponto-cerebellar atrophy represent very probably different varieties of one and the same degenerative process.
Aged↗