Pubblicazione conseguente al XXV Corso di aggiornamento in Neurologia infantile (Roma, marzo 2013)
Editors: S. D’Arrigo, D. Riva, E.M. Valente
London-Paris, John Libbey Eurotext Ltd, 2014, pp. 242

This book provides an update on paediatric neurological disorders with cerebellar involvement. The opening section of the volume is dedicated to the structure and function of cerebellum: the specific development of this organ, unlike other structures of the central nervous system, begins at a later stage of foetal development and lasts longer, even after birth, thus making the cerebellum particularly vulnerable to a wide range of insults, both genetic and acquired. Of particular interest are chapters that focus on cerebellar disorders which may occur in isolation, or else as part of more complex malformations of the posterior fossa or in association with other supratentorial anomalies. Such conditions may be encountered both as part of “static” congenital encephalopathies as well as in the frame of neurodegenerative or neurometabolic disorders. Besides, the recent advances in neuroimaging and genetics allow to better characterize and define the genetic basis of an increasing number of such conditions. The last part of the volume is dedicated to care and rehabilitation in cerebellar diseases: their correct diagnosis is pivotal in order to address patients to the appropriate genetic testing, plan clinical management and therapeutic strategies, and provide adequate counselling.

Contents
The cerebellum: structure and function
1) Cerebellum – small brain but large confusion: reappraisal 10 years later – Eugen Boltshauser and Andrea Poretti
2) The role of the cerebellum in higher cognitive and social functions in congenital and acquired diseases of developmental age – Daria Riva and Sara Bulgheroni
3) The cerebellum: semiotics and clinical approach to the patient – Stefano D’Arrigo, Erika Buzzi, Enrico Alfei and Chiara Pantaleoni
Cerebellar congenital malformations: neuroimaging and neuropathology
4) MRI of cerebellar malformations – Filippo Arrigoni, Romina Romaniello and Fabio Triulzi
5) Foetal MRI – Lucia Manganaro and Silvia Bernardo
6) Cerebellar malformations in the prenatal period – The pathologist’s role – Evelina Silvestri, Francesca Servadei and Valentina Toto
Cerebellar congenital malformations: syndromes
7) Joubert syndrome – Francesca Mancini, Alessia Micalizzi, Marta Romani and Enza Maria Valente
8) Update on pontocerebellar hypoplasia: novel subtypes, genes and insights – Veerle R.C. Eggens, Peter G. Barth and Frank Baas
9) X-linked disorders with cerebellar involvement – Ginevra Zanni
10) The ever-expanding spectrum of congenital muscular dystrophies – Eugenio Mercuri and Francesco Muntoni
11) Cystic malformations of the posterior fossa – Andrea Poretti, Thierry AGM Huisman and Eugen Boltshauser
Acquired cerebellar disorders
12) Cerebellar strokes in childhood – Maja Steinlin
13) Cerebellar injury in preterm infants – Isotta Guidotti, Licia Lugli, Natascia Bertoncelli, Marina Palmieri, Maria Carolina Bariola, Alberto Berardi, Alessandra Todeschini, Francesca Cavalleri, Fabrizio Ferrari
14) Cerebellar tumours – Veronica Biassoni, Elisabetta Schiavello and Maura Massimino
Cerebellar degenerative disorders
15) Neuroradiological findings in paediatric cerebellar degenerative diseases – Luisa Chiapparini
16) Ataxia-telangiectasia and ataxias with oculomotor apraxia – Vincenzo Leuzzi and Daniela D’Agnano
17) Infantile neuroaxonal dystrophy: PLA2G6-associated neurodegeneration – Vanessa Cavallera, Giovanna Zorzi and Nardo Nardocci
18) Autosomal recessive spastic ataxia of Charlevoix-Saguenay – Caterina Mariotti and Marta Panzeri
Care and rehabilitation in cerebellar disorders
19) Ataxic disorder in childhood: an approach providing assistance and motor rehabilitation – Roberta Battini, Eleonora Bieber, Manuela Casarano and Giovanni Cioni
20) Diagnosis, management and rehabilitation strategies in patients with cerebellar disorders: visual function – Sabrina G. Signorini, Cristina Fedeli, Antonella Luparia, Eleonora Perotto, Francesco Decortes, Mauro Antonini, Chiara Bertone, Walter Misefari, Giulio Ruberto, Paolo Emilio Bianchi and Umberto Balottin
21) Patients with pathology – Rehabilitation of cognitive functions – Viola Brenna, Chiara Gagliardi, Romina Romaniello and Renato Borgatti22) Cognitive-behavioural phenotype of Joubert syndrome – Review of the literature and preliminary data from the Italian JSRD study group – Sara Bulgheroni, Stefano D’Arrigo, Enza Maria Valente and Daria Riva