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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., (Copyright © 2017. Published by Elsevier Inc.)

Two groups of 10 patients with Parkinson's disease received doses of either 1g acetyl-L-carnitine (ALC) per day for seven days or 2g. The effects of this drug on intermittent luminous stimulation and on nocturnal sleep patterns were studied. In both cases with either dose of ALC the effect was an improvement of the H response, sleep stages and spindling activity. However a further study of the complexity of action of acetyl-L-carnitine is necessary.

In previous researches spontaneous nocturnal sleep in chronic chorea showed short total sleep time, prolonged sleep latency, several awakenings, reduction of REM sleep time, decrease in slow waves sleep, strong increase in sleep spindles. Some of these alterations improved after therapy with lithium, haloperidol and lithium, pimozide. Since the concentration of GABA has been found to be reduced in patients with Huntington's chorea, we studied the effect of sodium valproate, a drug that enhances GABA inhibition in cerebral cortex, on nocturnal sleep of six patients with chronic chorea, aged 35 to 60 years (mean 47,3). Nocturnal polygraphic records (EEG, EOG, EMG of chin muscles) were carried out after two consecutive adjustative nights, both before therapy and after sixty days of treatment with sodium valproate (800-2000 mg four times a day, orally). Moreover, chorea, finger dexterity and gait were each rated once a week by three members of the research team and by one independent observer, using a five points rating scale from 0 (normal) to 4 (very severely abnormal). Before therapy the sleep parameters were in accordance with our previous results in chronic choreic patients. After two months therapy we observed a statistically significant (P less than 0.05) reduction of awakenings and of wake time. Sodium valproate produced no objective change in any of the parameters of motor function studied. If singularly examined, however, a reduction of chorea was obtained only in a patient, whose favourable response to therapy was also demonstrated by the normalization of other sleep parameters. These data stress the importance of sleep study in extrapyramidal disorders and suggest a different involvement of GABA-mediated transmission in various patients with chronic chorea.

Marked adeno-tonsillar hypertrophy is certainly the most common respiratory disturbance found among children. Most particularly obstructive sleep apnea (OSA) leads to serious, at times fatal, consequences on the cardio-respiratory apparatus. Thus opinion in the literature unanimously holds that said syndrome is one precise indication for tonsillectomy and/or adenotomy. The present case study was performed on 19 children, age range 21 months to 6 years, with serious obstructions of the respiratory tract due to tonsillar or adeno-tonsillar hypertrophy (14 cases) or to isolated adenoid hypertrophy (5 cases). The sample was divided into 4 groups, taking into consideration the severity of the nighttime sleep obstruction and the type of obstruction. Polygraphy performed during sleep recorded objective OSA in 10 subjects with tonsillar or adeno-tonsillar hypertrophy, but no case was recorded in any subject with solely adenoid hypertrophy. The severity of the obstruction was likewise shown, judged both on the basis of frequency and duration of the pauses as well as on the cardio-respiratory complications, especially in the smallest children (less than 3 years). Furthermore, in the most serious cases significant hematological alterations were recorded. Tonsillectomy, performed in 9 of the 10 children with OSA, completely resolved the sleep disturbances and improved, or normalized, the broncho-pneumonic picture as well the hematological findings in those cases where preoperative complications were present. Even for those children who did not manifest OSA, tonsillectomy and/or adenotomy led to a more uniform rhythm and quality of their sleep.(ABSTRACT TRUNCATED AT 250 WORDS)