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.

Herpes Consensus PCR test: a useful diagnostic approach to the screening of viral diseases of the central nervous system.

Background: Infections of the central nervous system (CNS) are a difficult diagnostic problem for both clinicians and microbiologists. Various clinical signs, such as encephalitis, myelitis, meningitis, may be associated with herpesviruses. The use of multiplex 'Herpes Consensus' polymerase chain reaction (HC-PCR) in association with nested PCR (nPCR), in addition to classical techniques, made it possible to optimise the management of cerebrospinal fluid (CSF) and serum samples from patients affected by these viral diseases of the CNS.

Clinical pharmacodynamics of acetyl-L-carnitine in patients with Parkinson's disease.

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.

[Obstructive apnea syndrome during sleep in children: diagnosis and treatment].

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.

[Sleep in chronic chorea patients after therapy with sodium valproate].

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).