Centro Culturale "Lou Pourtoun" a Ostana (CN)

Ambito di attività L’attività di ricerca svolta da Massimo Crotti e Antonio De Rossi – DAD Politecnico di Torino – ha supportato e contribuito alla concezione architettonica, condotta dai professionisti, e alla definizione del programma funzionale di concerto con l’amministrazione comunale. L’esito progettuale fa parte dell’attività di terza missione che i docenti conducono, da oltre un decennio, a sostegno delle iniziative del piccolo comune alpino e per la valorizzazione del patrimonio architettonico e lo sviluppo locale dei territori montani. Il progetto Ostana, Valades Occitanes del Piemonte, alta Valle Po; a pochi chilometri dalle sorgenti del grande fiume e di fronte alla straordinaria piramide del Monviso. Un paese, con diverse borgate in abbandono, che a partire dalla metà degli anni ’80 ha deciso di scommettere sulla qualità dell’architettura e del paesaggio come leva dello sviluppo locale e della rigenerazione della comunità; strategia che ha permesso il passaggio dai 5 abitanti di trent’anni fa (erano 1200 nel 1921) agli attuali 50 residenti, tra cui nuovamente dei bambini. Il Centro Culturale Lou Pourtoun rappresenta soltanto l’ultimo tassello di questa strategia che intreccia qualità architettonica, politiche culturali e rinascita sociale ed economica. Collocato a 1.400 metri di quota nel cuore di un’antica borgata tardo medievale Miribrart, Lou Pourtoun deve il suo nome alla tipologia insediativa, caratteristica della borgata, che è alla base del progetto: una strada coperta – il pourtoun in occitano –, ortogonale al pendio, su cui si affacciano a monte e a valle le cellule edilizie dando vita a una specie di piccolo villaggio ospitato sotto un unico tetto. Il pourtoun è quindi al contempo uno spazio interno e una via esterna, su cui vengono ad allinearsi le case della borgata. L’edificio è organizzato su tre livelli, tra loro collegati e accessibili direttamente dalle diverse quote del pendio. Il piano inferiore ospita un grande spazio per esposizioni, proiezioni, conferenze; ai due livelli superiori sono organizzati i locali per le diverse attività culturali e ricreative intorno allo spazio centrale del pourtoun da cui, attraverso le alte vetrate, il volume si schiude agli scorci della borgata e al paesaggio del gruppo del Monviso. Il Centro culturale, completamente in pietra e dall’immagine fortemente massiva – ma in realtà profondamente cavo al proprio interno – trova nel disegno verticale delle vetrate, nella disposizione delle aperture e negli sguinci in corten il punto di inquieto equilibrio tra il tempo lungo della storia e l’architettura alpina contemporanea

KIF5A and ALS2 Variants in a Family With Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis

This paper describes the clinical evolution and the novel genetic findings in a KIF5A mutated family previously reported as affected by spastic paraparesis only. The additional evidence we report here, a homozygous ALS2 mutation detected in the proband, and the clinical evolution observed in the affected members of the family, are in line with the evidence of an overlap between Hereditary Spastic Paraplegias and Amyotrophic Lateral Sclerosis associated with variants in these genes. The proband, a 14-years-old boy, started manifesting a pure form of HSP at age 14 months. The disease rapidly progressed to a juvenile form of ALS. This boy carries a heterozygous missense variant in KIF5A p.(Glu755Lys), inherited from the father, and a homozygous missense variant in the alsin protein encoded by the ALS2 gene p.(Pro192Leu). The father shows a family history of ALS. In the last few years, he has been developing signs and symptoms of both upper and lower motor neuron degeneration, with mild bulbar motor involvement and emotional lability. The patients described in this family, confirm the continuum and partial overlap of the two clinical entities, HSP and ALS, historically viewed as distinct entities. The genetic findings in this family further substantiate the genetic bases underlying the overlap, broadening the clinical spectrum associated with KIF5A mutations

Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome

Aim: Assigning a disease-locus within the shortest regions of overlap (SRO) shared by deleted/duplicated subjects presenting this disease is a robust mapping approach, although the presence of different malformation traits and their attendance only in a part of the affected subjects can hinder the interpretation. To overcome the problem of incomplete penetrance, we developed an algorithm that we applied to the deletion region 1q23.3-q25, which contains three SROs, each contributing to the abnormal phenotype without clearly distinguishing between the different malformations. We describe six new subjects, including a healthy father and his daughter, with 1q23.3-q25 deletion of different sizes. The aim of this study was to correlate specific abnormal traits to the haploinsufficiency of specific gene/putative regulatory elements. Methods: Merging cases with those in the literature, we considered four traits, namely intellectual disability (ID), microcephaly, short-hands/feet, and brachydactyly, and conceived a mathematical model to predict with what probability the haploinsufficiency of a specific portion of the deletion region is associated with one of the four malformations. Results: The haploinsufficiency of PBX1 is strongly associated with ID. DNM3 and LHX4 are confirmed as responsible for growth retardation, whereas ATPIB1 was identified as a new candidate gene for microcephaly, short-hands/feet, and brachydactyly. Conclusion: Although our model is hampered by long-term position effects of regulatory elements, synergistic cooperation of several genes, and incomplete clinical assessment, it can be useful for contiguous gene syndromes showing a complex pattern of clinical characteristics. Obviously, functional approaches are needed to warrant its reliability

Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey

Objective: Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. The aim of this study was to assess the prevalence of SMA and treatment prescription in Italy. Methods: An online survey was distributed to 36 centers identified by the Italian government as referral centers for SMA. Data on the number of patients with SMA subdivided according to age, type, SMN2 copy number, and treatment were collected. Results: One thousand two hundred fifty-five patients with SMA are currently followed in the Italian centers with an estimated prevalence of 2.12/100,000. Of the 1,255, 284 were type I, 470 type II, 467 type III, and 15 type IV with estimated prevalence of 0.48, 0.79, 0.79 and 0.02/100,000, respectively. Three patients with SMA 0 and 16 presymptomatic patients were also included. Approximately 85% were receiving one of the available treatments. The percentage of treated patients decreased with decreasing severity (SMA I: 95.77%, SMA II: 85.11%, SMA III: 79.01%). Discussion: The results provide for the first time an estimate of the prevalence of SMA at the national level and the current distribution of patients treated with the available therapeutical options. These data provide a baseline to assess future changes in relation to the evolving therapeutical scenario

A case of early-onset and monophasic trigeminal autonomic cephalalgia: could it be a SUNCT?

A 2-year-old female came to the Neurological Emergency Room of "Giovanni XXIII" Hospital in Bari, 6 h after the onset of severe facial pain, which occurred soon after awakening. Stabbing pain affected the right frontal and periorbital area, with ipsilateral conjunctival injection, swelling of the eyelids and tearing. Except the duration, from 5 to 30 s., the attacks were stereotyped including the occurrence and features of autonomic signs. Based on the typical clinical findings and the normal magnetic resonance imaging (MRI), we diagnosed short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing syndrome (SUNCT). The spontaneous remission within a few hours made prophylactic therapy unnecessary. At the last follow-up, after 3 months, the patient was still symptom free. In our case, after an active period lasting 2 days the disease disappeared completely. However the typical features of the disease (unilateral pain, short duration and high frequency of the attacks, autonomic signs ipsilateral to pain, numbers of attacks) were all present. While the diagnostic criteria of the International Headache Society classification for SUNCT did not include the duration of disease, it is likely that the active period lasting 2 days could be an expression of the clinical variability of the disease. © Springer-Verlag 2010

Accuracy Improvement in Gait Analysis Measurements: Kinematic Modeling

Postural and motor changes in patients affected by abnormalities of movement are the results of the interactions of nervous system, musculoskeletal system and sensorial system. Gait analysis is a good technique to characterize various gait pathologies, and a high accuracy of the results is necessary in order to describe, in quantitative way, functional limitation related to the pathology. In this paper the model for modeling the kinematics of human body is implemented by considering data acquired from a camera of optoelectronic system capable of measuring three-dimensional coordinates of reflective markers placed in known positions on the patient. Kinematic model is reported for pelvis and accuracy of its trajectories acquired by cameras is also investigated. Moreover, since coordinate system of the other joints (hip, ankle, foot) are relative respect pelvic coordinate system, accuracy in its model can reduce errors in evaluation of essential angles to define human motion

Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5

Abstract In the present study, we describe two novel cases of SCA5 with early onset. The first one, carrying a novel heterozygous de novo missense mutation in SPTBN2 gene, showed a striking very severe cerebellar atrophy and reduction of volume of the pons at a very young age (16 months). The latter, carrying the first de novo intragenic deletion so far reported in SPTBN2 gene, showed a mild cerebellar atrophy involving the hemispheres and a later onset. In both cases, for the first time, a hyperintense signal of the dentate nuclei was observed