[Shy-Drager syndrome (multisystem atrophy with progressive autonomic insufficiency). Clinicopathologic study of a case]. / Sindrome di Shy-Drager (atrofia multisistemica con insufficienza autonomica progressiva). Studio clinicopatologico di un caso.

The clinical and neuropathological findings in a case of Shy-Drager syndrome in a 56-years-old woman are reported. The patient showed slowly progressive autonomic dysfunctions and additional non-autonomic abnormalities, including pyramidal, extrapyramidal and cerebellar features. The neuropathological examination revealed striatonigral degeneration and olivopontocerebellar atrophy; neuronal loss and reactive gliosis were found also in the pigmented nuclei of the brainstem and in the spinal cord, mainly in the intermediolateral columns. The nosological place of the Shy-Drager syndrome in systemic degenerative diseases is pointed out, and the possible etiopathogenetic mechanisms are briefly discussed.

[Pharyngo-esophageal motility disorders in Steinert's myotonic dystrophy. Description of a case presenting with dysphagia]. / Disordini della motilità faringo-esofagea nella distrofia miotonica di Steinert. Descrizione di un caso esordito con disfagia.

In Myotonic Dystrophy symptoms of gastrointestinal dysfunction may dominate the clinical picture or they may be manifested long before the musculoskeletal disturbances become apparent. A case of Myotonic Dystrophy in a 26-year-old woman with dysphagia as the symptom of clinical presentation is reported. Manometric investigations demonstrated motor dysfunctions in pharynx and in proximal, middle and distal portions of the esophageal body, indicating both striated and smooth muscle involvement. The pathophysiology of the esophageal motility disorders in Myotonic Dystrophy and the related therapeutic problems are briefly discussed.

[Oculopharyngeal muscular dystrophy. Description of a case with involvement of the central nervous system]. / Distrofia muscolare oculofaringea. Descrizione di un caso con interessamento del sistema nervoso centrale.

A sporadic case of oculopharyngeal muscular dystrophy occurred in a 74-year-old woman is described. High levels of IgA and IgG in the serum, and esophageal smooth muscle involvement are shown. Electromyography of several limb muscles displayed myopathic pattern with giant polyphasic motor unit potentials, suggesting superimposed denervation. The histological examination of peroneus brevis muscle biopsy specimen showed myopathic changes with dystrophic features, associated with neurogenic changes, including atrophic angulated fibers, small-group atrophy and type-grouping: concomitant involvement of spinal motor neuron pathway is hypotized, normal values of motor and sensory nerve conduction velocities excluding associated polineuropathy. Furthermore, Somatosensory Evoked Potentials recording revealed bilaterally increased Central Conduction Time. Referring to other similar cases previously reported in the literature, the significance of neurogenic involvement in oculopharyngeal muscular dystrophy is discussed.

[Primary rhabdomyosarcoma of the cerebellum. Histopathological and immunohistochemical study of an autopsy case]. / Rabdomiosarcoma primitivo del cervelletto. Studio istopatologico ed immunoistochimico di un caso autoptico.

Primary rhabdomyosarcoma of the cerebellum. Histopathological and immunohistochemical study: a necropsy case. A necropsy case of primary cerebellar rhabdomyosarcoma occurred in a 38-year-old man has been investigated by histological and immunohistochemical techniques. In the most differentiated rhabdomyoblasts microscopic analysis showed obvious cross-striations and immunohistochemical reactivity for myoglobin (PAP method). Many tumor cells were positive for vimentin and muscle-specific intermediate filament protein desmin, but neither for glial fibrillary acidic protein nor neuron-specific enolase. The diagnostic role of the immunohistochemistry in this tumor is pointed out. The clinicopathological features of 30 cases of primary rhabdomyosarcoma of the central nervous system previously reported in the literature are briefly reviewed, and the histogenesis is discussed.

Down patients: extracellular preamyloid deposits precede neuritic degeneration and senile plaques.

Using anti-SP28 (a polyclonal antibody to a 28 residue synthetic peptide homologous to the NH2-terminal region of the Alzheimer amyloid beta-protein) to investigate the cerebral cortex of 6 Down patients aged 6-55 y, we found that, besides senile plaques and congophilic vessels, extracellular deposits unrelated to degenerating neurites, tangle-bearing neurons or congophilic vessels were labelled. These deposits were similar to the extracellular deposits previously observed in the cerebral cortex of Alzheimer patients and non-demented individuals. The material accumulated in the deposits did not react with Congo red, thioflavine S or, on some occasions, silver salts and therefore might have been constituted by beta-protein precursors lacking the molecular conformation of amyloid fibrils. Age-related analysis of the cortical lesions in Down patients suggested that such extracellular deposits precede degenerating neurites and evolve into senile plaques.

Cerebral extracellular preamyloid deposits in Alzheimer's disease, Down syndrome and nondemented elderly individuals.

Using anti-SP28 (a polyclonal antibody to a 28 residue synthetic peptide homologous to the NH2-terminal region of Alzheimer amyloid beta-protein) to investigate the cerebral cortex of 8 Alzheimer and 6 Down patients and 13 nondemented individuals, we found that, besides senile plaques and congophilic vessels, extracellular deposits unrelated to degenerating neurites, tangle-bearing neurons or congophilic vessels were labelled. These deposits were observed in all Alzheimer and 4 Down patients, and in 5 nondemented individuals. The material accumulated in these deposits did not react with Congo red, thioflavine S or, on some occasions, silver salts and therefore might have been constituted by beta-protein and/or beta-protein precursors lacking the conformation of amyloid fibrils.

[Behavior of total IgE in normal and atopic subjects of various ages]. / Comportamento delle IgE totali in soggetti normali e atopici di varie età.

We have determined total IgE in serum of 640 healthy subjects and 620 atopic asthmatic subjects of both sexes, aged between 1 and 70. Values of antibody E after decimal logarithmic transformation have acquired a path as in Gaussian curves. Healthy subjects, chosen for sex and for unit of ten years of life, constantly show mean values in serum have appeared in the first and second decade of life in males; in second and third in females. Those facts should be originated by genetic factors connected with sex. We have described physiopathological conditions in which an increase of serum IgE could be connected with genetic factors and mechanism ascertained today, both responsible for the control of IgE.