F. Brignolio

Friedreich's ataxia: a descriptive epidemiological study in an Italian population

All the cases of Friedreichs 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 Friedreichs 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 Weinbergs 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 Dahlbergs formula (8%). This finding is not compatible with the hypothesis of genetic heterogeneity for FA.

Prevalence of hereditary ataxias and paraplegias in the province of Torino, Italy

A descriptive epidemiological survey of hereditary ataxias and spastic paraplegias was conducted in the province of Torino, Italy (2 327 996 inhabitants). On prevalence day (31 December 1982) 142 patients were alive. Total prevalence was 6.1 cases/100,000 inhabitants (95% confidence limits=5.1–7.0). The prevalence rate was 2.6 for recessive or sporadic juvenile ataxias, 1.3 for spastic paraplegias, 1.2 for autosomal dominant cerebellar ataxias, and 1.1 for late onset cerebellar ataxias. The prevalence of hereditary ataxias is similar in our province to that recorded in other populations, but hereditary spastic paraplegias are less frequent than in other populations.SommarioÈ stato condotto uno studio di epidemiologia descrittiva sulle atassie e paraplegie spastiche ereditarie nella provincia di Torino (2.327.996 abitanti). Al giorno di prevalenza (31 dicembre 1982), 142 pazienti erano vivi. La prevalenza totale era di 6.1 casi/100.000 abitanti (limiti di confidenza al 95%=5.1–7.0). La prevalenza era di 2.6 per le atassie recessive o sporadiche giovanili, 1.3 per le paraplegie spastiche, 1.2 per le atassie cerebellari dominanti, e 1.1 per le atassie cerebellari ad inizio tardivo. La prevalenza delle eredoatassie nella nostra provincia è simile a quella riscontrata in altre popolazioni, mentre meno frequenti sono le paraplegie spastiche ereditarie.

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

SummaryEight 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.

A survival analysis of 155 cases of progressive muscular atrophy

ABSTRACT – We performed a survival analysis of 155 cases of progressive muscular atrophy (PMA). In about half the cases, hands were involved first, the lower limbs in 30% and the shoulder girdle in 23%. The lifetables of PMA, adjusted to the expected mortality, showed a survival rate of 61.3% and 56.4% at three and five years, respectively. The location of onset symptoms did not modify the life expectancy, whereas the age of the patients at the moment of first diagnosis had a great influence on the course of the disease. The patients were further subdivided in two groups on the basis of the diffusion of the neuromuscular damage at the moment of the diagnosis. The course of the patients with a localized disease was markedly better than that of subjects with widespread disease. Some hypotheses are made about the latter group of cases.

Phenotypic and genotypic heterogeneity of dominantly inherited amyotrophic lateral sclerosis

ABSTRACT— 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.

Disability and quality of life in hereditary ataxias: a self-administered postal questionnaire

A postal questionnaire was sent to 151 patients affected by Friedreichs 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.

A Study of Prognostic Factors in Motor Neuron Disease

Latest advances in the study of motor neuron disease (MND) have pointed out some differences in the course of the illness; subgroups of patients with different survival experience have been identified. A review of studies based on survival analysis is reported in Table 1. It shows the 5-year survival variable from 10 to 50%. Few reports have been devoted to an extensive study of prognostic factors in MND[2, 14, 20, 23]. Age and clinical type at diagnosis are generally considered to influence the course of the disease.

Epidemiology of Motor Neuron Disease in Two Italian Provinces

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.

Glutamate dehydrogenase (GDH) deficiency in different types of progressive hereditary cerebellar ataxia.

ABSTRACT‐ Leukocyte glutamate dehydrogenase (GDH) was studied in 29 patients affected by progressive cerebellar ataxia (PCA) and in 20 healthy controls. Eight GDH‐deficient patients, with GDH activity 2 SD below mean value of controls, were identified. GDH deficiency did not identify a subgroup of PCA by characteristic pattern of inheritance and/or age of onset of disease. However, the GDH‐deficient patients presented more neurological signs than non‐ GDH‐deficient patients. A significant correlation was observed between GDH deficiency and the presence of extrapyramidal signs, supranuclear palsy, absence of osteotendineal reflexes and neurogenic electromyographical findings.

F and H responses elicited from muscles of the lower limb in normal subjects

Abstract Direct and central responses elicited by stimulation of the sciatic nerve at various levels were recorded from the abductor hallucis and soleus muscles in 10 healthy adults. The correlations between the conduction velocities of various kinds of fibres of the sciatic nerve (fibres responsible for the H reflex, for the F response, for the M wave, for the NAP) and between the threshold of the responses elicited were studied. The behaviour of the central response from the abductor hallucis muscle appears to be markedly affected by variations in the level at which the nerve was stimulated as well as in the intensity of the stimulus. This response showed a reflex component which was rare when the nerve was stimulated at the ankle but was frequent when the nerve was stimulated at the knee; it was even more prominent if the stimulus was applied in the upper thigh. In normal subjects, therefore, the F response of the abductor hallucis muscle is changed into a H reflex when the stimulation site is proximal.