Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy.

INTRODUCTION: We investigated the clinical differences between familial and sporadic frontotemporal dementia (FTD), screening for mutations in known FTD genes. METHODS: We diagnosed 22 affected individuals belonging to eight families and 43 sporadic cases with FTD in Apulia, Southern Italy, in 2 years. Mutations in common causative FTD genes (GRN, MAPT, VCP, and TARDBP) and C9ORF72 expansions were screened. RESULTS: Behavioral variant of FTD was the most common clinical subtype (50% and 69% in familial and sporadic cases, respectively). Social conduct impairment/disinhibition, loss of insight, and inflexibility were the most frequent clinical features observed at onset. One new mutation was identified in GRN in family A. DISCUSSION: Disease onset in sporadic FTD was more frequently characterized by a clustering of behavioral symptoms with apathy and loss of personal hygiene. Mutations in common causative FTD genes are not a major cause of familial and sporadic FTD in the Southern Italian population.

Motoneuron disease after electric injury: a case report.

Several cases of motor neuron disease (MND) after electric injury have been reported in the last number of years, but the relationship between electric injury and MND remains controversial. Herein we report the case of a 60-year-old man who developed a MND following an electrical trauma. In the case presented here, the onset of disease at the site of lightning strike and the short interval of time between the electrical injury and the clinical onset of MND raise the possibility of considering electrical shock as a trigger factor for MND.