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 neu...
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 p...
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 experimen...
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 hormo...
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 com...
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 syndromes are associa...
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 ...
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 tumo...
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 cognitiv...
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 clin...
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...
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 durin...
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, dec...
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 channelopat...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research
