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Chapter 9 - Movement disorders in childhood metabolic diseases
- from Section II - Movement disorders in systemic disease
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- By Emilio Fernández-Álvarez, Department of Neurology, Hospital San Juan de Dios, Barcelona, Spain, Agathe Roubertie, Department of Neurology, Hôpital Gui de Chauliac, Montpellier, France
- Edited by Werner Poewe, Joseph Jankovic, Baylor College of Medicine, Texas
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- Book:
- Movement Disorders in Neurologic and Systemic Disease
- Published online:
- 05 April 2014
- Print publication:
- 20 February 2014, pp 115-130
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Summary
Definitions and classification
Inborn errors of metabolism (IEM) represent a vast, diverse, and heterogeneous collection of disorders in which there is a block at some point in the normal metabolic pathway caused by a genetic defect of a specific enzyme. Up to now, more than 500 IEM have been characterized: the great majority are autosomal recessive. Broadly, these IEM may be divided into three groups (Saudubray et al. 2006):
Group 1: Disorders that give rise to an acute or chronic intoxication. It encompasses aminoacidopathies, organic acidurias, urea cycle disorders, sugar intolerances, metal disorders, and porphyrias. This group also includes inborn errors of neurotransmitter synthesis and catabolism, especially monoamine metabolism defects. The disorders included in group 1 share common features: no interference with embryo-fetal development, presentation after a symptom-free interval with chronic or intermittent manifestations sometimes triggered by provoking factors (for example, stress fever, intercurrent illness). Most of these disorders are treatable and require an emergency removal of the toxin by special diets, extracorporeal procedures, cleansing drugs, or vitamins.
Group 2: Disorders involving energy metabolism. This group includes inborn errors of intermediary metabolism that affect mitochondrial energetic processes (respiratory chain disorders, Krebs cycle and pyruvate oxidation defects, fatty acid oxidation disorders) and the cytoplasmic defects of energy metabolism (glucose transport defect, glycolysis, glycogenosis, gluconeogenesis, hyperinsulinisms, and creatine and pentose phosphate pathways). Some of these disorders might interfere with the embryo-fetal development; they give rise to chronic manifestations, sometimes associated with paroxysmal symptoms. Some of these disorders are partly treatable.
Group 3: Disorders involving complex molecules. This group involves cellular organelles and cellular trafficking and processing of complex molecules; it includes lysosomal, peroxisomal, glycosylation, and cholesterol synthesis defects. Symptoms are permanent, progressive, and independent of intercurrent events. Enzyme replacement therapy or bone marrow transplantation are indicated in some lysosomal storage diseases.
The spatial distribution of plankton communities in a Slope Water anticyclonic Oceanic eDDY (SWODDY) in the southern Bay of Biscay
- Emilio Fernández, Florentina Álvarez, Ricardo Anadón, Susana Barquero, Antonio Bode, Ana García, Carlos García-Soto, Julio Gil, Nicolás González, Arantza Iriarte, Beatriz Mouriño, Francisco Rodríguez, Ricardo Sánchez, Eva Teira, Silvia Torres, Luis Valdés, Manuel Varela, Ramiro Varela, Manuel Zapata
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- Journal:
- Journal of the Marine Biological Association of the United Kingdom / Volume 84 / Issue 3 / June 2004
- Published online by Cambridge University Press:
- 24 May 2004, pp. 501-517
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Slope Water anticyclonic Oceanic eDDIES (SWODDIES) are typical mesoscale features of open-ocean waters of the southern Bay of Biscay which usually develop in winter by shedding from the seasonal poleward current flowing along the northern Spanish slope. These eddies have been intensively studied from the physical perspective. However, their effect on the distribution of biological properties and on the functioning of the pelagic ecosystem has not been assessed so far. To this aim, a sea-truth, multidisciplinary and comprehensive study of a SWODDY was carried out in summer 1998. The eddy, radius of ≈50 km, was initially centred at 45·5°N 6·0°W, being characterized by a relatively homogeneous core of water in the centre of the eddy extending from 80 to about 200 dbar. In the central region of the core, temperature (12·55–12·75°C) and salinity (≈35·70) values were higher than outside the eddy. The optical properties of the eddy also differed from those of the surrounding waters. A distinct biological signature was found associated with the eddy. Depth-integrated chlorophyll-a concentrations were 25% higher at the eddy centre where upward doming of the seasonal pycnocline (up to 30 dbar) occurred. Enhanced phytoplankton biomass was related to a higher contribution of >10 μm cells, mainly represented by diatoms and chrysophyceans. Phytoplankton and mesozooplankton species composition in and outside the eddy differed significantly reflecting the coastal origin of the water parcel trapped by the eddy. The sharp modification of the planktonic community composition, biomass and associated size-structure caused by slope water oceanic eddies are likely to exert a significant effect upon the upper trophic levels of the pelagic ecosystem of the southern Bay of Biscay.
9 - The paroxysmal dyskinesias
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- By Nardo Nardocci, Department of Child Neurology, Istituto Neurologico C. Besta, Milan, Italy, Emilio Fernández-Alvarez, Servicio de Neuropediatria, Hospital de San Juan de Dios, Esplugues Barcelona, Spain, Nicholas W. Wood, Department of Clinical Neurology, Institute of Neurology, London, UK, Sian D. Spacey, Department of Clinical Neurology, Institute of Neurology, London, UK, Angelika Richter, Department of Pharmacology, Toxicology and Pharmacy, School of Veterinary Medicine, Hanover, Germany
- Edited by Renzo Guerrini, University of London, Jean Aicardi, Hôpital Robert-Debré, Paris, Frederick Andermann, Montreal Neurological Institute & Hospital, Mark Hallett, National Institutes of Health, Baltimore
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- Book:
- Epilepsy and Movement Disorders
- Published online:
- 03 May 2010
- Print publication:
- 13 December 2001, pp 125-140
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Summary
Introduction
Paroxysmal dyskinesias (PDs) refer to relatively brief attacks of abnormal movements and postures with return to normal between episodes. The abnormal movements consist of dystonia, choreo-athetosis, and ballism, often in combination. The duration is variable, from very short attacks lasting a few seconds to prolonged ones, lasting several hours. The frequency is variable, as is the side of the body involved. PDs can be sporadic or familial with autosomal dominant inheritance or can be symptomatic of different conditions (Bressman et al., 1988; Fahn, 1994; Demirkiran & Jankovic, 1995).
Since the first description by Mount and Reback (1940), numerous reports of patients with PDs have followed and several classifications, based on duration of attacks and etiology have been proposed (Lance, 1977; Goodenough et al., 1978; Fahn, 1994). The most recent one classifies PDs according to the precipitating events and distinguishes the following forms: paroxysmal kinesigenic dyskinesias (PKD), paroxysmal non-kinesigenic dyskinesias (PNKD), paroxysmal exertioninduced dyskinesias (PED), paroxysmal hypnogenic dyskinesias (PHD) (Demirkiran & Jankovic, 1995).
The purpose of the chapter is to describe the clinical features of the classical forms of PDs including benign paroxysmal torticollis of infants (BPT) and paroxysmal tonic up-gaze deviation of infants (PTUDI) and to review the more recent data on pathophysiology of PDs as derived from genetic studies and from animal model.
Clinical features
Paroxysmal kinesigenic dyskinesia (PKD)
Most cases of PKD are idiopathic, both familial with autosomal dominant pattern of inheritance or sporadic, but cases of symptomaticPKDare reported (Fahn, 1994; Marsden, 1996; Demirkiran & Jankovic, 1995; Hwang et al., 1998).
20 - Non-epileptic paroxysmal eye movements
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- By Emilio Fernández-Alvarez, Servicio de Neuropediatria, Hospital de San Juan de Dios, Esplugues Barcelona, Spain
- Edited by Renzo Guerrini, University of London, Jean Aicardi, Hôpital Robert-Debré, Paris, Frederick Andermann, Montreal Neurological Institute & Hospital, Mark Hallett, National Institutes of Health, Baltimore
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- Book:
- Epilepsy and Movement Disorders
- Published online:
- 03 May 2010
- Print publication:
- 13 December 2001, pp 333-342
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Summary
Introduction
Paroxysmal eye movements are most frequently observed in epileptic seizures. A tonic ocular deviation may be the first sign of an epileptic seizure, but usually the eye movements are associated or followed by other extraocular movements and alteration of consciousness. However, non-epileptic paroxysmal eye movements can be observed in several other neurological disorders of childhood (Table 20.1) and this chapter will deal with some of them.
Ocular tics
Tics are the abnormal movement most frequently observed in children. Their frequency and their association with fascinating disturbances of human behaviour such as compulsion and obsessions, grants them a prominent place amongst paroxysmal movement disorders in children.
Tics are repetitive movements of skeletal (motor tics) or respiratory/nasopharyngo-laryngeal muscles (phonatory tics). They are considered as stereotyped, involuntary, sudden, inopportune, non-propositional, absurd, irresistible movements, of variable intensity.
The term tic designates both a symptom and a disease. As a symptom it has a wide variety of clinical manifestations. Tic diseases are even more polymorphous. They may be limited to simple, transient tics present for less than a year, or as in Tourette disease, patients may present with several types of chronic motor and phonatory tics, which are often associated with compulsive–obsessive disorder, attention deficit, non-appropriate behaviour or sleep disturbances.
Although tics per se are generally easy to identify even for the lay person, they may sometimes be difficult to distinguish from other abnormal movements. Simple tics should be differentiated from myoclonus and complex tics from choreic movements, dystonia and stereotypies. The capability of patients to temporally control their tics is a useful diagnostic feature.