Mitofusin 2: The missing link between mtDNA maintenance defects and neurotransmitter disorders.

Mitofusin (MFN) 2 belongs to the large family of mitochondrial transmembrane GTPases and has a role in dynamic mitochondrial remodeling process governed by fusion and fission. MFN2 pathogenic variants classically cause Charcot-Marie-Tooth disease type 2A (CMT2A), the most common axonal form of CMT, but patients with complex and unusual phenotypes involving the central and peripheral nervous system have been described, with mitochondrial dysfunction proposed as the underlying pathogenic mechanism. Here, we report the first description of a neurochemical pattern of secondary alterations in the metabolism of biogenic amines linked to the de novo presence of the hotspot MFN2 pathogenic variant p.

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

Targeted resequencing gene panels are used in the diagnostic setting to identify gene defects in epilepsy. We performed targeted resequencing using a 30-genes panel and a 95-genes panel in 349 patients with drug-resistant epilepsies beginning in the first years of life. We identified 71 pathogenic variants, 42 of which novel, in 30 genes, corresponding to 20.

Co-occurring malformations of cortical development and SCN1A gene mutations.

Objective: To report on six patients with SCN1A mutations and malformations of cortical development (MCDs) and describe their clinical course, genetic findings, and electrographic, imaging, and neuropathologic features.

Methods: Through our database of epileptic encephalopathies, we identified 120 patients with SCN1A mutations, of which 4 had magnetic resonance imaging (MRI) evidence of MCDs. We collected two further similar observations through the European Task-force for Epilepsy Surgery in Children.

Schizophrenia in real life: courses, symptoms and functioning in an Italian population.

Background: In the general belief, schizophrenia is associated with the concepts of seriousness, incurability, dangerousness: this is incorrect. In recent decades, the interest in course studies increased and different trends emerged, not necessarily chronic, with the possibility of remission.The plan of this research was to draw a picture of the schizophrenia syndrome in a specific geographic area, in the past and at present time: this allows to detect needs, weaknesses and strengths, for a better planning of future interventions.

Schizophrenia and quality of life: how important are symptoms and functioning?

Objective: the relationship between Quality of life (QoL) and global functioning and symptoms in outpatients with Schizophrenia

Method: The study was carried out on the outpatients with schizophrenia attending a Community Mental Health Centre in 2008. Each patient completed the WHO QoL Instrument - Brief and was administered the Brief Psychiatric Rating Scale-24 to assess psychiatric symptoms and the VADO Personal and social Functioning Scale to assess the level of functioning.

Results: subjects showed an intermediate satisfaction on the overall QoL and health; these data can be juxtaposed to the national standard sample rates.