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...
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),...
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...
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 ...
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 M...
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 emerge...
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 pr...
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...
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 (explosiv...
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...
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 ...
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 ...
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. Overcomi...
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 sens...
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, ...
Source: Handbook of Clinical Neurology - June 12, 2018 Category: Neurology Source Type: research
