Abstract
A clinical, genetic and epidemiological study of hereditary motor and sensory neuropathies (HMSN) was performed in the province of Turin, Italy. The patients were allocated to 5 groups, according to genetic and electroneurographic features. The high proportion of males among recessive and sporadic cases in the present series may suggest the existence of a recessive X-linked form of the disease. The crude prevalence rate was 3.18 (± 0.72)/100.000 population for all cases. The slow progression rate and the frequently mild symptoms of the disease, already suggested in literature, are confirmed by the analysis of the survival curves of the cases.
Sommario
È stato condotto uno studio clinico, genetico ed epidemiologico sulle neuropatie ereditarie sensori-motorie nella provincia di Torino. I casi sono stati suddivisi in 5 gruppi sulla base di caratteri genetici ed elettroneurografici. L'altra proporzione di pazienti maschi tra i casi recessivi e sporadici potrebbe suggerire l'esistenza di forme ad ereditarietà recessiva X-linked. Il tasso grezzo di prevalenza per tutti i casi era di 3.18 (±0.72/100000 abitanti. L'analisi delle curve di sopravvivenza dei casi conferma la lenta progressione e la modesta sintomatologia della maggior parte dei soggetti affetti da questa malattia.
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Chiò, A., Tribolo, A., Brignolio, F. et al. Hereditary motor and sensory neuropathies: A genetic and epidemiological study in the province of Turin, Italy. Ital J Neuro Sci 8, 369–374 (1987). https://doi.org/10.1007/BF02335741
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DOI: https://doi.org/10.1007/BF02335741