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, their mole...
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 b...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research
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 m...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research
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 ...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research
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 n...
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 re...
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. Pat...
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 identification o...
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 human...
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...
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 acros...
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 m...
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 st...
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 patt...
Source: Handbook of Clinical Neurology - June 12, 2018 Category: Neurology Source Type: research
