Motor neuron disease and malignancies: results of a population-based study.

Eight cases of malignancies with concurrent motor neuron disease (MND), derived from an unselected population representing all cases of MND diagnosed during a 15-year period in two Italian provinces, were studied to verify the existence of paraneoplastic forms of the disease. No statistically significant association between the two diseases was found. Therefore, from our findings the occurrence of a neoplasm in a patient affected by MND can be considered a chance association.

Clinical-anatomic study of a family with bulbo-spinal muscular atrophy in adults.

Four cases are presented, with bulbo-spinal muscular atrophy characterised by adult onset and rapid evolution. They belong to a family in which the type of inheritance is probably dominant. Two cases were studied histologically. The most striking feature was the disappearance of neurons in the lower motor nuclei of medulla and of the spinal anterior horns. An electron microscopic study was carried out in one case. Accumulation of neurofilaments was a general characteristic, in addition to the picture of different sized spheroids. The clinical-pathological relationship is discussed.

Atypical and polymorphic angioblastic tumors of the central nervous system.

Five central nervous system (CNS) polymorphic angioblastic tumors have been studied. Four were located in the posterior fossa and one involved the temporal lobe. In reviewing the literature, the authors point out the rarity of the supratentorial locations and of malignant hemangioblastomas. The clinical and anatomopathological peculiarities are discussed, as is the uncertain classification of two cases. The discrepancy between histology and outcome is focused upon in the other three cases. Finally, the diagnostic, prognostic, and nosographic difficulties posed by CNS angioblastic neoplasms are discussed.

Spongiform encephalopathy in addicts inhaling pre-heated heroin.

Three subjects, inhaling pre-heated heroin, developed a severe neurological illness. The neuropathological examination at autopsy on two of them demonstrated that it was due to a spongiform encephalopathy. By light and electron microscopy a severe edema with spongiosa and myelin damage were evident. U-fibers, brainstem, spinal cord and peripheral nerves were spared. The origin of the encephalopathy was not identified. The encephalopathy of our cases is similar to that described by Wolters et al. in 1982 in Holland.

[Evaluation of the effectiveness of monotherapy in the treatment of epilepsy]. / Valutazione dell'efficacia della monoterapia nel trattamento dell'epilessia.

On 44 patients undergoing monotherapy, with total plasma levels of drug therapeutic range, 33 had a reduction of the frequency of seizures, while the remaining 11 were unmodified. There was 90% improvement in Primary Generalized seizures, 73% in Secondary Generalized and 62% in Partial Complex; 27% of PC, 16% of PG and 16% of SG shifted to polytherapy. Considering that monotherapy can be better managed and is less toxic, we can recommend it as first choice treatment in newcomers, as a maintenance therapy, and as treatment of choice for the gradual elimination of therapy.

[The diagnostic course in patients with hereditary ataxias and hereditary spastic paraparesis]. / L'iter diagnostico dei pazienti affetti da atassie e paraparesi spastiche ereditarie.

A postal questionnaire was sent to all patients affected by hereditary ataxias and hereditary spastic paraparesis resident in the province of Turin (Italy) to study their diagnostic process. A 61% response rate was obtained. The mean time interval between onset and diagnosis was 6 years (1 to 32 years). The percentage of late diagnoses dropped from 59% before 1959 to 19% after 1970, mostly because a reduction of the interval between symptom onset and the first contact with the general practitioner. The onset with dysarthria and ataxia led to earlier neurologic consultation, but the whole time requested for the diagnosis was not modified. A reduction of the time needed for the diagnostic process may be important to address the family to an early genetic counselling.

Considerations on the malignancy of papillary meningioma. Clinico-pathological study of eight cases.

Eight papillary meningiomas, out of a collection of 750 cases of meningiomas, have been studied clinically and anatomopathologically. 2 had long survival without recurrences, 2 died shortly after operation, 4 had one or more recurrences with death. The 2 cases with long survival showed, at microscopical examination, few mitoses. On the contrary, in the six cases come to death the histological features were characterized by marked pleomorphism, focal necroses and frequent typical and atypical mitoses. In these cases, the correlation between "more malignant" histological aspects and "more aggressive" clinical behaviour is undoubtedly suggestive.

[Histochemical demonstration of glial enzyme activity. I. Normal glia]. / Rivista sintetica sull'evidenziazione istochimica di alcune attività enzimatiche nella glia. I. Glia normale.

The literature data for normal glia enzyme activity are reviewed, with special reference to the specific phosphatases and the nucleoside-phosphatases and their relationship to transport mechanisms and the Golgi apparatus. Their demonstration still presents technical difficulties and is also hindered by substrate affinity variations which influence the histochemical picture; greater activity is sometimes observed in the oligodendrocytes and sometimes in the astrocytes and, in the latter, in different cytoplasma or nucleus structures. Using 32ATP, Hyden has shown the importance of this enzyme as a regulator of neuron K availability and of substrate transport from the capillaries to the nerve cells. Several workers have shown the striking positivity of the ATPase reaction in animal glia, as well as its importance in the sodium pump mechanism. Carboanhydrase is also involved in transport mechanisms. Giacobini has demonstrated high cholinesterase values and an absence of AChE in oligodendrocytes and astrocytes. Lysosome has been proved to be an arylsulphatase site. Phosphorylase is important in glial cell metabolism, since high levels indicate increased glycogen metabolism.

[Histochemical demonstration of glial enzyme activity. II. Reagent and neoplastic glia]. / Rivista sintetica sull'evidenziazione istochimica di alcune attività enzimatiche nella glia. II. Glia reattiva e neoplastica.

Enzyme activity changes in reagent and neoplastic glia are examined. In the case of reagent glia, considerably increased ADPase, ATPase and AMPase values have been observed in experimental elective parenchymal necrosis in the rat, in hypertrophic astrocytes from recent plaques in multiple necrosis, in demyelinisation associated with cyanide encephalopathy, and in reagent astrocytes surrounding tumours and arteriosclerosis sites. Depressed ATPase values have been observed in experimental oedema, as compared with increased TPPase in human oedema. BuChE and ChE activity disappears in both oligodendro- and astroglia near old cerebral infarct sites, whereas there is marked BuChE activity peripherally to multiple sclerosis plaques and in areas of phenylpyruvic oligophrenia demyelinisation. In neoplastic glia, ADPase is clearly evident in malignant gliomas, ATPase is related to the extent of the cell body, AMPase is positive in medulloblastoma cell cytoplasm and beta-glucuronidase increases in anaplasia. Above-normal ChE activity has been observed in astrocyte tumors, while BuChE is greater than that of AChE. Phosphorylase reaction is intense in astrocytoma and in glioblastoma giant cells. Phosphoglucomutase values are below-normal in tumours, except in the case of ependymoma, while both phosphohexoisomerase and hexokinase display increased activity in atypical forms.

[A case of Leber's hereditary optical atrophy in a family with evident signs of hereditary degenerative neuropathy]. / Contributo allo studio del morbo di Leber. Presentazione di un caso appartenente ad una famiglia con stigmate di neuropatia degenerativa ereditaria.

Reference is made to a case of Leber's disease in a patient with other slight neurological signs of the type encountered in hereditary ataxias. The importance of the case lies in the following points: (a) very early onset (this is a rare finding: 2.5% of cases, according to Ronne); (b) the presence of nervous abnormalities of the Charcot-Marie-Tooth amyotrophy type and of hereditary spinal of cerebellar ataxia in some of the 35 members of the patient's family, with or without optical atrophy; (c) the prevalence of the disease, though not to the total exclusion of females, suggesting a primarily diagynic multifactorial form of transmission. The main features of the case are compared with those reported in the literature.

[Roussy-Levy's syndrome: clinical aspects (author's transl)]. / Considerazioni sulla malattia di Roussy-Lévy: contributo clinico.

A case of non familial Roussy-Lévy syndrome is presented: optic atrophy, gait ataxia, bilateral hypotrophy of thenar and hypothenar muscles, weak deep tendon reflexes of the upper limbs, weak knee jerks, absent ankle jerks, bilateral Babinski, anapallaesthesia from the bisiliac spine distally, bilateral pes cavus. The literature on Roussy-Lévy syndrome is discussed and whether this syndrome should be considered as a precise entity among heredo-degenerative diseases. The overlapping of differing clinical features may suggest an intermediate form between Friedreich's and Charcot-Marie-Tooth's diseases.

Phenotypic and genotypic heterogeneity of dominantly inherited amyotrophic lateral sclerosis.

Twenty-seven cases of hereditary amyotrophic lateral sclerosis (ALS), belonging to 8 families, are reported. The analysis of the pedigrees suggests an autosomal dominant transmission, apparently with incomplete penetration. The mean age at onset of symptoms was 50.3 (SD 12.4) years. The mean duration of the disease was 31.2 (SD 20.4) months, ranging from 9 to 86. The median survival time was 24 months. The degree of variation of some quantitative characters, both within and among families, was statistically analyzed. The results support the hypothesis of a phenotypic and genetic heterogeneity of autosomal dominant transmitted ALS.

Post-poliomyelitic motor neuron disease. Clinical aspects and its relation to typical motor neuron disease.

Eighteen cases of post-poliomyelitic motor neuron disease (PPMND) were found in a series of 869 subjects affected by motor neuron disease (MND). The mean age of onset of acute anterior poliomyelitis (AAP) was 43.6 months. The mean age of onset of MND was 45.9 years. No case had a bulbar onset and hyperreflexia was found in only 2 subjects, one of them having also bilateral extensor plantar response. The survival curve showed a better course of these cases, compared to typical MND (TMND). The present study seems to indicate that PPMND and TMND are different diseases.