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"This clinically orientated text by an international group of experts is the first definitive reference book on disorders of the cerebellum in children. It presents a wealth of practical clinical experience backed up by a strong scientific basis for the information and guidance given. The first part sets out the theoretical underpinnings of cerebellar disorders. This is followed by sections on clinical conditions grouped according to common characteristics such as aetiology and symptomatology. The descriptions of the clinical conditions each systematically cover, as appropriate, epidemiology,…mehr
"This clinically orientated text by an international group of experts is the first definitive reference book on disorders of the cerebellum in children. It presents a wealth of practical clinical experience backed up by a strong scientific basis for the information and guidance given. The first part sets out the theoretical underpinnings of cerebellar disorders. This is followed by sections on clinical conditions grouped according to common characteristics such as aetiology and symptomatology. The descriptions of the clinical conditions each systematically cover, as appropriate, epidemiology, prevalence, diagnostic criteria, clinical features (including course and prognosis), pathophysiology, genetics, investigations, differential diagnosis, and management and treatment. This book will be an invaluable resource for all those caring for children affected by cerebellar disorders, including malformations, genetic and metabolic disorders, acquired cerebellar damage, vascular disorders and acute ataxias. This comprehensive reference text on cerebellar disorders in children includes chapters on cerebellar development, prenatal cerebellar imaging, imaging of the posterior fossa, with coverage of a broad range of malformations, genetic and metabolic disorders involving the cerebellum, prenatal cerebellar disruptions (as related to prematurity), vascular disorders, tumors and paraneoplastic syndromes, as well as acute ataxia and trauma to the posterior fossa. Numerous checklists are provided to assist in the differential diagnosis of clinical signs and neuroimaging findings.
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Autorenporträt
Prof. Dr Eugen Boltshauser is Head of the Department of Neurology at the University Children's Hospital in Zurich. He has published on several neuropaediatric topics and particularly on cerebellar malformations and cerebellar disruptions. He proposed the designation Joubert syndrome (also known as Joubert-Boltshauser syndrome) in the second paper on this topic for the rare hereditary malformation syndrome of brainstem and cerebellum, at present probably the best studied cerebellar malformation, a paradigm for marked genetic heterogeneity and a "model disease" for impaired primary cilia function as well as for disturbed axonal guidance Dr Jeremy Schmahmann is Professor of Neurology at Massachusetts General Hospital and Harvard Medical School and Director of the Ataxia Unit at Massachusetts General Hospital, Boston, MA. He was awarded the Norman Geschwind Prize for research in behavioral neurology from the American Academy of Neurology and the Behavioral Neurology Society, and the Distinguished Neurology Teacher Award from the American Neurological Association. He pioneered the field of the cognitive neuroscience of the cerebellum, describing a new clinical syndrome - the cerebellar cognitive affective syndrome. His anatomical investigations and clinical and imaging studies have helped change the way we understand and treat patients with cerebellar disorders and neuropsychiatric illness.
Inhaltsangabe
Contents 1. Cerebellar Development Kathleen J. Millen, Kathryn E. Waimey (Chicago, IL, USA, Samin A. Sajan (Seattle, WA, USA) and Kathleen J. Millen (Seattle, WA, USA) 2. The Cerebellum, Neurology and Cognition The essential anatomy of the cerebellum and related structures Jeremy Schmahmann (Boston, MA, USA) The function of the cerebellum Jeremy Schmahmann (Boston, MA, USA) Approach to the neurological examination of children with cerebellar disorders Jeremy Schmahmann (Boston, MA, USA) Impairment of cognition and emotion in children with cerebellar disorders: an approach to recognition, evaluation and treatment Jeremy Schmahmann (Boston, MA, USA) 3. Imaging of the Cerebellum Prenatal imaging and outcome in fetuses with posterior fossa abnormalities Dan Doherty and Deborah Levine (Seattle, WA, USA) Neuroimaging of the posterior fossa Thierry Huisman (Baltimore, MD, USA) 4. Malformations of the Cerebellum Malformations: introductory comments Eugen Boltshauser (Zurich, Switzerland) Cerebellar agenesis Andrea Poretti and Eugen Boltshauser (Zurich, Switzerland) Cerebellar hypoplasias Andrea Poretti and Eugen Boltshauser (Zurich, Switzerland) Non-progressive congenital ataxia Andrea Poretti and Eugen Boltshauser (Zurich, Switzerland) Dandy-Walker malformation Dan Doherty (Seattle, WA, USA) Joubert syndrome and related disorders Enza Maria Valente (Messina, Italy), Francesco Brancati (Messina, Italy) and Bruno Dallapiccola (Rome, Italy) Chiari type I malformation Michael S. Salman (Winnipeg, Canada) Chiari type II malformation Michael S. Salman (Winnipeg, Canada) Cerebellar dysplasia Andrea Poretti and Eugen Boltshauser (Zurich, Switzerland) Cerebellar cysts and neuroimaging in congenital muscular dystrophies Andrea Poretti, Andrea Klein and Eugen Boltshauser (Zurich, Switzerland) Rhombencephalosynapsis and Gomez-Lopez-Hernandez syndrome Andrea Poretti and Eugen Boltshauser (Zurich, Switzerland) Macrocerebellum Andrea Poretti (Zurich, Switzerland) Hemicerebellar megalencephaly Andrea Poretti (Zurich, Switzerland) Brainstem disconnection Cerebellar hypoplasia Andrea Poretti and Eugen Boltshauser (Zurich, Switzerland) Pontine tegmental cap dysplasia Andrea Poretti (Zurich, Switzerland) Non-progressive cerebellar ataxia Andrea Poretti and Eugen Boltshauser (Zurich, Switzerland) Brainstem malformations associated with cerebellar abnormalities c 5. Genetic and Metabolic Disorders Involving the Cerebellum Pontocerebellar hypoplasias Peter G. Barth (Amstelveen, The Netherlands) Autosomal dominant spinocerebellar ataxias in children Andrea Nemeth (Oxford, UK) X-linked cerebellar disorders Ginevra Zanni and Enrico Bertini (Rome, Italy) Recessive ataxias Allessandra Terraciano, Ginevra Zanni and Enrico Bertini (Rome, Italy) Ataxia in metabolic and white-matter disorders Nicole Wolf (Heidelberg, Germany) The episodic ataxias Tracey D. Graves and Michael G. Hanna (London, UK) Neurocutaneous syndromes with cerebellar involvement Thierry Huisman (Baltimore, MD, USA) 6. Cerebellar Disruptions Prenatal cerebellar disruptions Andrea Poretti and Eugen Boltshauser (Zurich, Switzerland) Cerebellar injury related to prematurity Catherine Limperopoulos (Montreal, Canada) 7. Vascular Disorders, Tumors and Paraneoplastic Cerebellar Syndromes Paraneoplastic cerebellar syndromes: introductory comments Andrea Poretti (Zurich, Switzlerand) Vascular disorders of the posterior fossa Maja Steinlin (Bern, Switzerland) Posterior fossa tumours Michael Grotzer (Zurich, Switzerland) Neurodegeneration in Langerhans cell histiocytosis Eugen Boltshauser (Zurich, Switzerland) Paraneoplastic degeneration in paediatric Hodgkin disease Andrea Poretti (Zurich, Switzerland) 8. Acute Ataxia Acute ataxia: introductory comments Peter Baxter (Sheffield, UK) Acute inflammatory diseases of the cerebellum Marc Tardieu (Paris, France) Opsoclonus-myoclonus syndrome Mike Pike (Oxford, UK) Other acute ataxias: other Peter Baxter (Sheffield, UK) 9. Extrinsic Insults Trauma to the posterior fossa Daune MacGregor (Toronto, Canada) Toxic agents Andrea Poretti and Eugen Boltshauser (Zurich, Switzerland) Gluten ataxia Andrea Poretti and Eugen Boltshauser (Zurich, Switzerland) 10. Checklists
Contents 1. Cerebellar Development Kathleen J. Millen, Kathryn E. Waimey (Chicago, IL, USA, Samin A. Sajan (Seattle, WA, USA) and Kathleen J. Millen (Seattle, WA, USA) 2. The Cerebellum, Neurology and Cognition The essential anatomy of the cerebellum and related structures Jeremy Schmahmann (Boston, MA, USA) The function of the cerebellum Jeremy Schmahmann (Boston, MA, USA) Approach to the neurological examination of children with cerebellar disorders Jeremy Schmahmann (Boston, MA, USA) Impairment of cognition and emotion in children with cerebellar disorders: an approach to recognition, evaluation and treatment Jeremy Schmahmann (Boston, MA, USA) 3. Imaging of the Cerebellum Prenatal imaging and outcome in fetuses with posterior fossa abnormalities Dan Doherty and Deborah Levine (Seattle, WA, USA) Neuroimaging of the posterior fossa Thierry Huisman (Baltimore, MD, USA) 4. Malformations of the Cerebellum Malformations: introductory comments Eugen Boltshauser (Zurich, Switzerland) Cerebellar agenesis Andrea Poretti and Eugen Boltshauser (Zurich, Switzerland) Cerebellar hypoplasias Andrea Poretti and Eugen Boltshauser (Zurich, Switzerland) Non-progressive congenital ataxia Andrea Poretti and Eugen Boltshauser (Zurich, Switzerland) Dandy-Walker malformation Dan Doherty (Seattle, WA, USA) Joubert syndrome and related disorders Enza Maria Valente (Messina, Italy), Francesco Brancati (Messina, Italy) and Bruno Dallapiccola (Rome, Italy) Chiari type I malformation Michael S. Salman (Winnipeg, Canada) Chiari type II malformation Michael S. Salman (Winnipeg, Canada) Cerebellar dysplasia Andrea Poretti and Eugen Boltshauser (Zurich, Switzerland) Cerebellar cysts and neuroimaging in congenital muscular dystrophies Andrea Poretti, Andrea Klein and Eugen Boltshauser (Zurich, Switzerland) Rhombencephalosynapsis and Gomez-Lopez-Hernandez syndrome Andrea Poretti and Eugen Boltshauser (Zurich, Switzerland) Macrocerebellum Andrea Poretti (Zurich, Switzerland) Hemicerebellar megalencephaly Andrea Poretti (Zurich, Switzerland) Brainstem disconnection Cerebellar hypoplasia Andrea Poretti and Eugen Boltshauser (Zurich, Switzerland) Pontine tegmental cap dysplasia Andrea Poretti (Zurich, Switzerland) Non-progressive cerebellar ataxia Andrea Poretti and Eugen Boltshauser (Zurich, Switzerland) Brainstem malformations associated with cerebellar abnormalities c 5. Genetic and Metabolic Disorders Involving the Cerebellum Pontocerebellar hypoplasias Peter G. Barth (Amstelveen, The Netherlands) Autosomal dominant spinocerebellar ataxias in children Andrea Nemeth (Oxford, UK) X-linked cerebellar disorders Ginevra Zanni and Enrico Bertini (Rome, Italy) Recessive ataxias Allessandra Terraciano, Ginevra Zanni and Enrico Bertini (Rome, Italy) Ataxia in metabolic and white-matter disorders Nicole Wolf (Heidelberg, Germany) The episodic ataxias Tracey D. Graves and Michael G. Hanna (London, UK) Neurocutaneous syndromes with cerebellar involvement Thierry Huisman (Baltimore, MD, USA) 6. Cerebellar Disruptions Prenatal cerebellar disruptions Andrea Poretti and Eugen Boltshauser (Zurich, Switzerland) Cerebellar injury related to prematurity Catherine Limperopoulos (Montreal, Canada) 7. Vascular Disorders, Tumors and Paraneoplastic Cerebellar Syndromes Paraneoplastic cerebellar syndromes: introductory comments Andrea Poretti (Zurich, Switzlerand) Vascular disorders of the posterior fossa Maja Steinlin (Bern, Switzerland) Posterior fossa tumours Michael Grotzer (Zurich, Switzerland) Neurodegeneration in Langerhans cell histiocytosis Eugen Boltshauser (Zurich, Switzerland) Paraneoplastic degeneration in paediatric Hodgkin disease Andrea Poretti (Zurich, Switzerland) 8. Acute Ataxia Acute ataxia: introductory comments Peter Baxter (Sheffield, UK) Acute inflammatory diseases of the cerebellum Marc Tardieu (Paris, France) Opsoclonus-myoclonus syndrome Mike Pike (Oxford, UK) Other acute ataxias: other Peter Baxter (Sheffield, UK) 9. Extrinsic Insults Trauma to the posterior fossa Daune MacGregor (Toronto, Canada) Toxic agents Andrea Poretti and Eugen Boltshauser (Zurich, Switzerland) Gluten ataxia Andrea Poretti and Eugen Boltshauser (Zurich, Switzerland) 10. Checklists
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