Chapter 27 The cerebellum from the fetus to the elderly: history, advances, and future challenges
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Mario Manto, Thierry A.G.M. Huisman The cerebellum is now at the forefront of research in neuroscience. This is not just a coincidence, occurring about 250 years after the first description of the human cerebellum. The cerebellum contains the majority of neurons in the central nervous system and it is heavily connected with almost all cortical and subcortical areas of the supratentorial region as well as with the brainstem and the spinal cord. Cerebellar circuits are embedded in large-scale networks contributing to motor control and neuroc...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research

Chapter 26 Noninvasive stimulation
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Roberta Ferrucci, Alberto Priori The cerebellum plays a fundamental role in movement execution and motor control in humans. Because of multiple cerebellar connections and a broad variety of motor and nonmotor functions, the field of cerebellar stimulation with noninvasive techniques has gained success among researchers in the last few years. These techniques allow investigation of the neural network noninvasively, collecting more information on cerebellar physiology and pathophysiology. Several studies have highlighted the therapeutic pote...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research

Chapter 25 Neurotransplantation therapy
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Jan Cendelin, Hiroshi Mitoma Neurotransplantation may be a promising approach for therapy of cerebellar diseases characterized by a substantial loss of neurons. Neurotransplantation could rescue neurons from degeneration and maintain cerebellar reserve, facilitate cerebellar compensation, or help reconstruct damaged neural circuits by cell substitution. These mechanisms of action can be of varying importance according to the type of cerebellar disease. Neurotransplantation therapy in cerebellar ataxias is still at the stage of experimental...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research

Chapter 24 Drug treatment
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Susan Perlman, Eugen Boltshauser There are no approved disease-modifying therapies for any of the inherited cerebellar ataxias. Drug treatment in childhood ataxia is still very limited. Effective treatments are available for only a few rare metabolic hereditary disorders. Symptomatic management of associated tremor, spasticity, dystonia, or chorea can follow the medication recommendations in general usage. The foundation of management of cerebellar ataxia in adults or children remains rehabilitation. (Source: Handbook of Clinical Neurology)
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research

Chapter 23 Endocrine disorders and the cerebellum: from neurodevelopmental injury to late-onset ataxia
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Mario Manto, Christiane S. Hampe Hormonal disorders are a source of cerebellar ataxia in both children and adults. Normal development of the cerebellum is critically dependent on thyroid hormone, which crosses both the blood–brain barrier and the blood–cerebrospinal fluid barrier thanks to specific transporters, including monocarboxylate transporter 8 and the organic anion-transporting polypeptide 1C1. In particular, growth and dendritic arborization of Purkinje neurons, synaptogenesis, and myelination are dependent on thyroid ...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research

Chapter 22 Toxic-induced cerebellar syndrome: from the fetal period to the elderly
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Mario Manto, Gaetano Perrotta The cerebellum is a brain region which is particularly susceptible to intoxication. Clinical presentation is heterogeneous. It is often considered that elderly patients and patients presenting pre-existing structural lesions of the posterior fossa are particularly at risk of developing a toxic-induced cerebellar syndrome (TOICS). However, TOICS may occur at any age, including in utero. Indeed, the cerebellum is highly vulnerable during neurodevelopment. Amongst cerebellotoxic agents, ethanol is the most common...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research

Chapter 21 Immune-mediated ataxias
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Bastien Joubert, Kevin Rostásy, Jérôme Honnorat Immune-mediated cerebellar ataxia (CA) comprises a group of rare diseases that are still incompletely described, and are probably underdiagnosed. Both acute and progressive progressions are possible. Different syndromes have been identified, including CA associated with anti-GAD antibodies, the cerebellar type of Hashimoto encephalopathy, primary autoimmune CA, gluten ataxia, opsoclonus-myoclonus syndrome, and paraneoplastic cerebellar degenerations. Most of these syndrome...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research

Chapter 20 Cerebellar stroke in adults and children
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Hakan Sarikaya, Maja Steinlin Stroke in older age has reached epidemic proportions worldwide, and an increasing incidence has also been recognized in young adults and children. This chapter deals with stroke occurring in the cerebellum. Cerebellar stroke may present in a completely different way from common stroke syndromes in the anterior cerebral circulation. It can initially mimic benign vestibular neuritis and may later deteriorate into a life-threatening neurologic state. Posterior circulation stroke presents similarly in children and...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research

Chapter 19 Cerebellar tumors
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Ana S. Guerreiro Stucklin, Michael A. Grotzer The cerebellum is the most common site of presentation of central nervous system tumors in children but exceedingly rare in adults. Children often present with acute symptoms related to increased intracranial pressure, requiring urgent surgical intervention. The differential diagnosis is broad and includes a variety of benign and malignant entities. Cerebellar low-grade gliomas are the most common and benign, slow-growing tumors, for which surgical resection alone is curative. Embryonal tumors,...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research

Chapter 18 Cerebellar mutism syndrome
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Coriene Catsman-Berrevoets, Zoltan Patay Cerebellar mutism most commonly, but not exclusively, develops in children after surgery for midline cerebellar or intraventricular tumors in the posterior fossa, typically medulloblastoma. Cerebellar mutism syndrome (CMS) comprises a complex set of neurologic and neurocognitive signs and symptoms, the cardinal and central component of which is an initially profound but usually reversible speech disorder. As such, CMS is currently recognized as an extreme form of the so-called cerebellar cognitive a...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research

Chapter 17 The cerebellum and dystonia
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Matteo Bologna, Alfredo Berardelli Dystonia is a heterogeneous disorder characterized by involuntary muscle contractions, twisting movements, and abnormal postures in various body regions. It is widely accepted that the basal ganglia are involved in the pathogenesis of dystonia. A growing body of evidence, however, is challenging the traditional view and suggest that the cerebellum may also play a role in dystonia. Studies on animals indicate that experimental manipulations of the cerebellum lead to dystonic-like movements. Several clinica...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research

Chapter 16 Essential tremor and the cerebellum
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Elan D. Louis Essential tremor (ET) is a progressive and highly prevalent neurologic disease. Along with the tremors, mild to moderate gait ataxia and other signs of cerebellar dysfunction may occur (i.e., subtle saccadic eye movement abnormalities and abnormalities of motor timing) as well as cognitive features, some of which may be due to cerebellar dysfunction. Numerous neuroimaging studies indicate the presence of functional, metabolic, and structural abnormalities in the cerebellum of a patient with ET. In tandem with these clinical a...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research

Chapter 15 Epigenetic cerebellar diseases
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Mercedes Serrano Epigenetics is a growing field of knowledge that is changing our understanding of pathologic processes. For many cerebellar disorders, recent discoveries of epigenetic mechanisms help us to understand their pathophysiology. In this chapter, a short explanation of each epigenetic mechanism (including methylation, histone modification, and miRNA) is followed by references to those cerebellar disorders in which relevant epigenetic advances have been made. The importance of normal timing and distribution of methylation during ...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research

Chapter 14 Sporadic adult-onset ataxia
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Thomas Klockgether Sporadic adult-onset ataxia (SAOA) is a nongenetic neurodegenerative disorder of the cerebellum of unknown cause which manifests with progressive ataxia. It is distinguished from hereditary ataxias and from acquired ataxias. SAOA also needs to be differentiated from multiple system atrophy of cerebellar type (MSA-C). Thus, the diagnosis of SAOA can only be made by exclusion. Although cerebellar ataxia is the prominent symptom in SAOA, patients often have additional nonataxia signs, including pyramidal tracts signs, decre...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research

Chapter 13 Episodic ataxias
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Joanna C. Jen, Jijun Wan Primary episodic ataxias (EAs) are a group of dominantly inherited disorders characterized by transient recurrent incoordination and truncal instability, often triggered by physical exertion and emotional stress, variably associated with progressive baseline ataxia. There are now eight designated subtypes based largely on genetic loci. Mutations have been identified in multiple individuals and families with EA1, EA2, and EA6, mostly with onset before adulthood. EA1 and EA2 are prototypical neurologic channelopathie...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research

Chapter 12 Spastic ataxias
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Olena Bereznyakova, Nicolas Dupré The presence of spasticity and pyramidal features is a hallmark of some of hereditary ataxias, such as autosomal-recessive spastic ataxia of Charlevoix–Saguenay, other primary spastic ataxias, Friedreich ataxia, or ataxia with isolated vitamin E deficiency. Certain spastic paraplegias, such as spastic paraplegia 7, may present as an ataxic phenotype and often share common pathophysiologic pathways with cerebellar ataxias. Because of the rarity and genetic heterogeneity of these conditions, the...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research

Chapter 11 X-linked ataxias
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Ginevra Zanni, Enrico Bertini X-linked cerebellar ataxias (XLCA) are an expanding group of genetically heterogeneous and clinically variable conditions characterized by cerebellar dysgenesis (hypoplasia, atrophy, or dysplasia) caused by gene mutations or genomic imbalances on the X chromosome. The neurologic features of XLCA include hypotonia, developmental delay, intellectual disability, ataxia, and other cerebellar signs. Normal cognitive development has also been reported. Cerebellar defects may be isolated or associated with other brai...
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Chapter 10 Spinocerebellar ataxias
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Bing-Wen Soong, Patrick J. Morrison There are over 40 autosomal dominant spinocerebellar ataxias (SCAs) now identified. In this chapter we delineate the phenotypes of SCAs 1-44 and dentatorubral-pallidoluysian atrophy (DRPLA) and highlight the clinical and genetic features of the well characterised SCAs in detail in the main section of the chapter, along with their frequency and age at onset. We have included a section on the key phenotypic features of rare spinocerebellar ataxias and discuss rare and unusual presentations and genetic mech...
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Chapter 9 Mitochondrial ataxias
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Hilary J. Vernon, Laurence A. Bindoff Ataxia is one of the most frequent symptoms of mitochondrial disease. In most cases it occurs as part of a syndromic disorder and the combination of ataxia with other neurologic involvement such as epilepsy is common. Mitochondrial ataxias can be caused by disturbance of the cerebellum and its connections, involvement of proprioception (i.e., sensory ataxia) or a combination of both (spinocerebellar). There are no specific features that define an ataxia as mitochondrial, except perhaps the tendency for...
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Chapter 8 Metabolic ataxias
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Fatima Y. Ismail, Hiroshi Mitoma, Ali Fatemi The nervous system is vulnerable to intrinsic and extrinsic metabolic perturbations. In particular, the cerebellum, with its large Purkinje cells and its high density of neurons and glial cells, has high metabolic demand and is highly vulnerable to metabolic derangements. As a result, many disorders of intermediary metabolism will preferentially and sometimes selectively target the cerebellum. However, many of these disorders present in a multisystem fashion with ataxia being a part of the neuro...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research

Chapter 7 Nonsyndromic cerebellar ataxias associated with disorders of DNA single-strand break repair
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Grace Yoon, Keith W. Caldecott Hereditary cerebellar ataxias are genetically and clinically heterogeneous, and an important subgroup of these disorders are caused by defects in DNA repair. These conditions are inherited in an autosomal-recessive fashion, with the main clinical feature being ataxia due to cerebellar degeneration. The nervous system in general, and the cerebellum in particular, is especially susceptible to DNA damage, although the underlying mechanism for this vulnerability has not been fully elucidated. Defects in DNA repai...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research

Chapter 6 Nonprogressive congenital ataxias
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Enrico Bertini, Ginevra Zanni, Eugen Boltshauser The terminology of nonprogressive congenital ataxia (NPCA) refers to a clinically and genetically heterogeneous group of disorders characterized by congenital or early-onset ataxia, but no progression or even improvement on follow-up. Ataxia is preceded by muscular hypotonia and delayed motor (and usually language) milestones. We exclude children with prenatal, perinatal, and postnatal acquired diseases, malformations other than cerebellar hypoplasia, and defined syndromic disorders. Patient...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research

Chapter 5 Recessive ataxias
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Matthis Synofzik, Andrea H. Németh Recessive ataxias (spinocerebellar ataxias, recessive or SCARs) are a heterogeneous group of rare, mostly neurodegenerative genetic disorders which usually start in childhood or early adult life. They can be subdivided into two major groups: predominant sensory or afferent ataxias, which are disorders mainly of the peripheral input to the cerebellum, and predominant cerebellar ataxias, in which the cerebellum is primarily affected. Next-generation sequencing technology has enabled the identificatio...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research

Chapter 4 Cerebellar involvement in autism and ADHD
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Muriel M.K. Bruchhage, Maria-Pia Bucci, Esther B.E. Becker The cerebellum has long been known for its importance in motor learning and coordination. However, increasing evidence supports a role for the cerebellum in cognition and emotion. Consistent with a role in cognitive functions, the cerebellum has emerged as one of the key brain regions affected in nonmotor disorders, including autism spectrum disorder and attention deficit-hyperactivity disorder. Here, we discuss behavioral, postmortem, genetic, and neuroimaging studies in humans in...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research

Chapter 3 Cerebellar injury in preterm infants
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Emily W.Y. Tam Although preterm birth is best known to result in adverse neurodevelopmental outcomes through injury of the supratentorial structures, including intraventricular hemorrhage and periventricular leukomalacia, the cerebellum has become increasingly recognized as an important target for injury and adverse motor and cognitive outcomes. Undergoing the most dramatic growth during the preterm period, the cerebellum is vulnerable to large and small hemorrhages, as well as hypoplasia resulting from a number of potentially modifiable r...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research

Chapter 2 Chiari 1 deformity in children: etiopathogenesis and radiologic diagnosis
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Charles Raybaud, George I. Jallo The metamerically associated normal hindbrain and normal posterior fossa are programmed to grow together in such a way that the tonsils are located above the foramen magnum and surrounded by the cerebrospinal fluid (CSF) of the cisterna magna. This allows the pulsating CSF to move freely up and down across the craniovertebral junction (CVJ). A developmental mismatch between the rates of growth of the neural tissue and of the bony posterior fossa may result in the cerebellar tonsils being dislocated across t...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research

Chapter 1 Fetal cerebellar disorders
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Tally Lerman-Sagie, Daniella Prayer, Sophia Stöcklein, Gustavo Malinger The embryologic development of the cerebellum extends over a long time period, thus making it vulnerable to a broad spectrum of malformations and disruptions. Knowledge of the main steps of fetal posterior fossa development; the normal imaging patterns at different stages of embryogenesis; the large spectrum of cerebellar malformations; and their clinical presentations enables diagnosis and precise counseling of parents. Sonography is the most important imaging me...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research

Chapter 20 Scales for the clinical evaluation of cerebellar disorders
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 154 Author(s): Katrin Bürk, Deborah A. Sival Clinical scales represent an important tool not only for the initial grading/scoring of disease and assessment of progression, but also for the quantification of therapeutic effects in clinical trials. There are several scales available for the clinical evaluation of cerebellar symptoms. While some scales have been developed and evaluated for specific cerebellar disorders such as Friedreich ataxia, others reliably capture cerebellar symptoms with no respect to the underlying etiology. Each scale has its s...
Source: Handbook of Clinical Neurology - June 12, 2018 Category: Neurology Source Type: research

Chapter 19 Neuro-ophthalmologic assessment and investigations in children and adults with cerebellar diseases
We describe the approach for assessing specific eye movements linked to cerebellar function, discuss appropriate eye movement laboratory tests, and summarize recent related research findings. In addition, for each laboratory test, we discuss its advantages, disadvantages, indications, and interpretations. Furthermore, we provide differential diagnoses for specific ocular motor and vestibular abnormalities such as slow saccades or impaired vestibulo-ocular reflexes. (Source: Handbook of Clinical Neurology)
Source: Handbook of Clinical Neurology - June 12, 2018 Category: Neurology Source Type: research

Chapter 18 Neurophysiology of gait
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 154 Author(s): Mariano Serrao, Alberto Ranavolo, Carlo Casali Beyond the classic clinical description, recent studies have quantitatively evaluated gait and balance dysfunction in cerebellar ataxias by means of modern motion analysis systems. These systems have the aim of clearly and quantitatively describing the differences, with respect to healthy subjects, in kinematic, kinetic, and surface electromyography variables, establishing the basis for a rehabilitation strategy and assessing its efficacy. The main findings which characterize the gait pattern ...
Source: Handbook of Clinical Neurology - June 12, 2018 Category: Neurology Source Type: research

Chapter 17 Laboratory investigations
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 154 Author(s): Eugen Boltshauser, Konrad P. Weber This chapter deals with chemical and hematologic investigations which are often considered in the diagnostic workup of subacute to chronic cerebellar ataxias. Relevant investigations in blood (serum, plasma), urine, and cerebrospinal fluid are discussed. Particular attention is paid to early diagnosis of treatable metabolic ataxias (such as abetalipoproteinemia, coenzyme Q10 deficiency, cerebrotendinous xanthomatosis, glucose transporter type 1 deficiency, Refsum disease, and vitamin E deficiency), but au...
Source: Handbook of Clinical Neurology - June 12, 2018 Category: Neurology Source Type: research

Chapter 16 Genetics of cerebellar disorders
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 154 Author(s): Enza Maria Valente, Sara Nuovo, Dan Doherty The approach to identifying a genetic cause in patients with cerebellar disorders relies on history, examination, consultation, and testing, combined with specialized expertise because they are rare and genetically diverse. Cerebellar disorders can be caused by a variety of DNA alterations including single-nucleotide changes, small insertions or deletions, larger copy number variants, and nucleotide repeat expansions, exhibiting autosomal-recessive, autosomal-dominant (inherited and de novo), X-l...
Source: Handbook of Clinical Neurology - June 12, 2018 Category: Neurology Source Type: research

Chapter 15 Nuclear medicine of the cerebellum
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 154 Author(s): Alessandra Vella, Mario Mascalchi Single-photon emission computed tomography (SPECT) and positron emission tomography (PET) with different radiotracers enable regional evaluation of blood flow and glucose metabolism, of receptors and transporters of several molecules, and of abnormal deposition of peptides and proteins in the brain. The cerebellum has been used as a reference region for different radiotracers in several disease conditions. Whole-brain voxel-wise analysis is not affected by a priori knowledge bias and should be preferred. S...
Source: Handbook of Clinical Neurology - June 12, 2018 Category: Neurology Source Type: research

Chapter 14 Probing the neuroanatomy of the cerebellum using tractography
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 154 Author(s): Christophe Habas, Mario Manto Diffusion tensor imaging (DTI) is a noninvasive neuroimaging tool assessing the organization of white-matter tracts and brain microstructure in vivo. The technique takes into account the three-dimensional (3D) direction of diffusion of water in space, the brownian movements of water being constrained by the brain microstructure. The main direction of diffusion in the brain is extracted to obtain the principal direction of axonal projection within a given voxel. Overall, the diffusion tensor is a mathematic ana...
Source: Handbook of Clinical Neurology - June 12, 2018 Category: Neurology Source Type: research

Chapter 13 Conventional MRI
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 154 Author(s): Filippo Arrigoni, Sonia Calloni, Thierry A.G.M. Huisman, Luisa Chiapparini Conventional magnetic resonance imaging (MRI) allows for a detailed noninvasive visualization/examination of posterior fossa structures and represents a fundamental step in the diagnostic workup of many cerebellar disorders. In the first part of this chapter methodologic issues, like the correct choice of hardware (magnets, coils), pro and cons of the different MRI sequences, and patient management during the examination are discussed. In the second part, the MRI an...
Source: Handbook of Clinical Neurology - June 12, 2018 Category: Neurology Source Type: research

Chapter 12 Ultrasound and CT of the posterior fossa in neonates
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 154 Author(s): Elizabeth Snyder, Misun Hwang, Bruno P. Soares, Aylin Tekes Ultrasound, CT and MRI may all be used in the evaluation of the posterior fossa in neonates depending on the clinical scenario. Ultrasonography is particularly valuable for the evaluation of the neonatal brain because of the lack of ionizing radiation and the ability to perform exams at the bedside and, importantly, advancements in ultrasound technology now allow for diagnostic-quality imaging. While CT is still the initial imaging modality of choice in most neurologic emergencies...
Source: Handbook of Clinical Neurology - June 12, 2018 Category: Neurology Source Type: research

Chapter 11 Language and the cerebellum
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 154 Author(s): Peter Mariën, Renato Borgatti During the past decades neuroanatomic, neuroimaging, and clinical studies have substantially changed the long-standing view of the role of the cerebellum as a sole coordinator of sensorimotor function. Currently, the cerebellum is considered to be crucially implicated in a variety of cognitive, affective, social, and behavioral processes as well. In this chapter we aim to summarize a number of critical insights from different research areas (neuroanatomy, functional neuroimaging, clinical practice) that p...
Source: Handbook of Clinical Neurology - June 12, 2018 Category: Neurology Source Type: research

Chapter 10 Cognitive aspects: sequencing, behavior, and executive functions
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 154 Author(s): Marco Molinari, Marcella Masciullo, Sara Bulgheroni, Stefano D’Arrigo, Daria Riva The question posed today is not whether the cerebellum plays a role in cognition, but instead, how the cerebellum contributes to cognitive processes, even in the developmental age. The central role of the cerebellum in many areas of human abilities, motor as well as cognitive, in childhood as well as in adulthood, is well established but cerebellar basic functioning is still not clear and is much debated. Of particular interest is the changing face of c...
Source: Handbook of Clinical Neurology - June 12, 2018 Category: Neurology Source Type: research

Chapter 9 Cerebellar motor syndrome from children to the elderly
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 154 Author(s): Mario Manto More than a century after the description of its cardinal components, the cerebellar motor syndrome (CMS) remains a cornerstone of daily clinical ataxiology, in both children and adults. Anatomically, motor cerebellum involves lobules I–V, VI, and VIII. CMS is typically associated with errors in the metrics of voluntary movements and a lack of coordination. Symptoms and motor signs consist of speech deficits, impairments of limb movements, and abnormalities of posture/gait. Ataxic dysarthria has a typical scanning (explos...
Source: Handbook of Clinical Neurology - June 12, 2018 Category: Neurology Source Type: research

Chapter 8 The neuropathology of the adult cerebellum
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 154 Author(s): Arnulf H. Koeppen This chapter summarizes the neuropathologic features of nonneoplastic disorders of the adult cerebellum. Gait ataxia and extremity dysmetria are clinical manifestations of diseases that interrupt the complex cerebellar circuitry between the neurons of the cerebellar cortex, the cerebellar nuclei (especially the dentate nuclei), and the inferior olivary nuclei. The cerebellum is a prominent target of several sporadic and hereditary neurodegenerative diseases, including multiple system atrophy, spinocerebellar ataxia, and F...
Source: Handbook of Clinical Neurology - June 12, 2018 Category: Neurology Source Type: research

Chapter 7 Cerebellar networks and neuropathology of cerebellar developmental disorders
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 154 Author(s): Harvey B. Sarnat The cerebellar system is a series of axonal projections and synaptic circuits as networks, similar to those of the limbic system and those subserving the propagation and spread of seizures. Three principal cerebellar networks are identified and cerebellar disease often affects components of the networks other than just the cerebellar cortex. Contemporary developmental neuropathology of the cerebellum is best considered in the context of alterations of developmental processes: embryonic segmentation and genetic gradients al...
Source: Handbook of Clinical Neurology - June 12, 2018 Category: Neurology Source Type: research

Chapter 6 Physiology of the cerebellum
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 154 Author(s): Egidio D'Angelo The cerebellum is a central brain structure deeply integrated into major loops with the cerebral cortex, brainstem, and spinal cord. The cerebellum shows a complex regional organization consisting of modules with sagittal orientation. The cerebellum takes part in motor control and its lesions cause a movement incoordination syndrome called ataxia. Recent observations also imply involvement of the cerebellum in cognition and executive control, with an impact on pathologies like dyslexia and autism. The cerebellum operates as...
Source: Handbook of Clinical Neurology - June 12, 2018 Category: Neurology Source Type: research

Chapter 5 Topography of the cerebellum in relation to social brain regions and emotions
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 154 Author(s): Maria Leggio, Giusy Olivito In the last few decades, an increasing number of studies have focused on better characterizing the cerebellar functions beyond motor control, including emotional and social domains. Anatomic and functional evidence strongly contributes to delineating the cerebellar functional subdivisions and their integration with cerebral functional networks strictly related to emotional regulation and social functioning, thus suggesting a model of cerebellar organization that resembles that of the cerebral cortex. Overcoming ...
Source: Handbook of Clinical Neurology - June 12, 2018 Category: Neurology Source Type: research

Chapter 4 Functional topography of the human cerebellum
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 154 Author(s): Catherine J. Stoodley, Jeremy D. Schmahmann Accumulating evidence points to a critical role for the human cerebellum in both motor and nonmotor behaviors. A core tenet of this new understanding of cerebellar function is the existence of functional subregions within the cerebellum that differentially support motor, cognitive, and affective behaviors. This cerebellar functional topography – based on converging evidence from neuroanatomic, neuroimaging, and clinical studies – is evident in both adult and pediatric populations. The...
Source: Handbook of Clinical Neurology - June 12, 2018 Category: Neurology Source Type: research

Chapter 3 Principles of organization of the human cerebellum: macro- and microanatomy
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 154 Author(s): Reiko Ashida, Nadia L. Cerminara, Jon Brooks, Richard Apps In this chapter, we compare current understanding of the anatomy and functional compartmentation of the human cerebellum with detailed knowledge in nonhuman species. The anatomy of the cerebellum is highly conserved across mammals and comparison of functional data suggests that similar principles of organization also hold true for somatotopy. In particular, there is a dual representation of the limbs in the cerebellar cortex in rat, ferret, cat, monkey, and human. In animals, a key...
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Chapter 2 Embryology
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 154 Author(s): Parthiv Haldipur, Derek Dang, Kathleen J. Millen With the growing recognition of the extent and prevalence of human cerebellar disorders, an understanding of developmental programs that build the mature cerebellum is necessary. In this chapter we present an overview of the basic epochs and key molecular regulators of the developmental programs of cerebellar development. These include early patterning of the cerebellar territory, the genesis of cerebellar cells from multiple spatially distinct germinal zones, and the extensive migration and...
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Chapter 1 Historic notes on anatomic, physiologic, and clinical research on the cerebellum
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 154 Author(s): Jan Voogd, Peter J. Koehler This chapter is concerned with ideas on the function, structure, and pathology that shaped our present knowledge of the cerebellum. One of the main themes in its early history is its localization subtentorially, leading to misattributions due to clinical observations in trauma and lesion experiments that caused collateral damage to the brainstem. Improvement of techniques led to the insight that it plays a role in movement control (Rolando) or coordination (Flourens). Purkinje initiated the histology of the cere...
Source: Handbook of Clinical Neurology - June 12, 2018 Category: Neurology Source Type: research

Chapter 28 Concluding remarks
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 153 Author(s): Maurizio Pocchiari, Jean Manson This is the first volume of the Handbook of Clinical Neurology totally devoted to prion diseases. The reason for this choice is to inform neurologists and neuroscientists about the remarkable advances that this field has made in the diagnosis of human and animal prion diseases, understanding the pathogenesis of disease, and in the development of novel in vivo and in vitro models. In recent years, the knowledge of prion replication and mechanisms of prion spreading within the brain and peripheral organs of in...
Source: Handbook of Clinical Neurology - June 8, 2018 Category: Neurology Source Type: research

Chapter 27 Public health: surveillance, infection prevention, and control
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 153 Author(s): Hester Ward, Anna Molesworth, Sulisti Holmes, Katy Sinka Human prion diseases, though relatively rare, remain an ongoing public health problem. They are fatal diseases, with unconventional host responses and no early diagnostic tests or robust treatments. Public health measures were put in place to protect the food chain in the United Kingdom from the late 1980s, with similar measures following elsewhere. However, human prion diseases are transmissible through other routes, including through blood transfusion and surgery. As a result, the ...
Source: Handbook of Clinical Neurology - June 8, 2018 Category: Neurology Source Type: research

Chapter 26 Safety of blood, blood derivatives, and plasma-derived products
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 153 Author(s): Marc L. Turner There has been concern for several decades around the possibility that prion diseases may be transmissible by blood components and / or plasma products. Whilst the evidence in respect of transmission of sporadic Creutzfeldt–Jakob disease (CJD) is largely circumstantial, the identification of variant CJD gave rise to increased concern due to the evidence of prion accumulation in peripheral lymphoid tissue at the time of clinical disease. A series of studies of appendix tissues in the United Kingdom revealed prion accumu...
Source: Handbook of Clinical Neurology - June 8, 2018 Category: Neurology Source Type: research