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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.

All the cases of Friedreich's ataxia (FA) diagnosed between 1945 through 1984 among residents of a defined area of northwestern Italy were ascertained (N = 59). Cases were diagnosed according to the criteria of the "Quebec Cooperative Study on Friedreich's Ataxia (QCSFA)" with minor modifications. We identified 39 families with 47 probands and 12 secondary cases. Therefore ascertainment probability was 80%. Male to female ratio was 1:1. Pedigrees were compatible with autosomal recessive inheritance. Segregation ratio was 0.28 with both Weinberg's method and the "singles" method (under incomplete ascertainment). Point prevalence ratio was 1.2/100,000 population. Birth incidence rate was 1/36,000 live births. Gene frequency was estimated to be 1/191. The ratio of first-cousin marriages observed among parents of FA patients (3%) was lower than expected from Dahlberg's formula (8%). This finding is not compatible with the hypothesis of genetic heterogeneity for FA.

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.

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.

A postal questionnaire was sent to 151 patients affected by Friedreich's disease (FD) and other hereditary ataxias (OHA) to study their disability and quality of life. A 79.5% response rate was obtained. A scoring system based on disability in walking, dressing, personal care, eating and speaking was developed and used. Walking was the most impaired activity. The degree of disability was similar between FD and OHA. Institutionalization, frequency of social contacts, work activity, recreational and social activities were influenced by disability.

Incidence and prevalence rates of motor neuron disease in two Italian provinces (Asti and Cuneo, Piedmont region) in the period 1971 through 1985 were estimated. The data were omogeneous in the investigated area, but an increasing incidence of the disease during the period studied was found, particularly in older age groups and in females. An increasing trend in mean age of onset of symptoms was also found.

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.

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.