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32 results on '"Di Fabio R"'

1. ‘When atlastin meets spastin’

Author

Di Fabio, R., primary, Tessa, A., additional, Marcotulli, C., additional, Leonardi, L., additional, Pierelli, F., additional, Santorelli, F.M., additional, and Casali, C., additional

Published
2014
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31. Large deletion mutation of SPAST in a multi-generation family from Sardinia.

Author

Racis L, Di Fabio R, Tessa A, Guillot F, Storti E, Piccolo F, Nesti C, Tedde A, Pierelli F, Agnetti V, Santorelli FM, and Casali C

Subjects
Adult, Age of Onset, Aged, Female, Humans, Italy, Male, Middle Aged, Pedigree, Phenotype, Spastin, Adenosine Triphosphatases genetics, Sequence Deletion, Spastic Paraplegia, Hereditary genetics
Abstract

Background and Purpose: The hereditary spastic paraplegias (HSP) are characterized by progressive spasticity of the lower limbs, mostly inherited as an autosomal dominant trait. Analyses of large HSP pedigrees could help to better characterize the phenotype due to a single causative mutation. Patients in a seven-generation kindred carrying a large deletion in SPAST/SPG4 are described., Methods: Individuals originating from Sardinia were clinically and genetically studied., Results: Sixty-seven subjects carried a heterozygous deletion encompassing exons 2-17 of SPAST. Fifty patients (53.2 ± 15.4 years) presented a pure form of spastic paraparesis characterized by mild impairment and slow progression. Most patients showed spasticity, increased tendon reflexes in the lower limbs and Babinski sign, whilst weakness was rarely detected and urinary disturbances occasionally reported. Amongst the 17 asymptomatic carriers of the mutation, minimal neurological signs were detected in 11 cases., Conclusions: A focus on spasticity, increased tendon reflexes and Babinski sign, more than on weakness, could help clinicians to promote early diagnosis in asymptomatic carriers of SPAST deletions., (© 2013 The Author(s) European Journal of Neurology © 2013 EAN.)

Published
2014
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32. Scuba diving is not associated with high prevalence of headache: a cross-sectional study in men.

Author

Di Fabio R, Vanacore N, Davassi C, Serrao M, and Pierelli F

Subjects
Adult, Cross-Sectional Studies, Humans, Male, Middle Aged, Prevalence, Risk Factors, Severity of Illness Index, Surveys and Questionnaires, Diving adverse effects, Headache epidemiology, Headache etiology
Abstract

Objective: To study the prevalence of cephalalgia in male divers., Background: Scuba divers work in stressing environments and have a high cerebrovascular risk, both conditions which are supposed to contribute to the genesis of cephalalgia. However, no study assessed expressly the prevalence of cephalalgia in divers, to date., Methods: We enrolled 201 professional male scuba divers (41.0 ± 7.2 years) and controls (41.1 ± 7.2 years), and the risk ratio and its corresponding 95% confidence of suffering from cephalalgia was calculated., Results: We found that 16% of divers and 22% of matched controls were affected by cephalalgia (P > .05), accounting for a risk ratio of 0.71 (95% CI 0.47-1.07). Divers reported fewer attacks per month (1.8 ± 0.7, n = 32) with regard to controls (2.5 ± 1.8, n = 45) (P = .02), but no differences concerning age at onset and severity were detected (P > .05). Divers suffered from migraine, migraine with aura and tension headache as much as controls., Conclusion: Scuba diving, an intense physical activity characterized by cerebral micro-vascular distress, is not associated with cephalalgia, as a whole, or migraine, tension headache or migraine with aura, more commonly than in a matched, non-diving, population. A longitudinal study may disclose if diving may act as a protective factor in the occurrence of crises of cephalalgia., (© 2011 American Headache Society.)

Published
2012
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