Stiff Person Syndromes
Stiff person syndrome is an uncommon neurological disease characterised by symmetrical muscle stiffness and spasms that often lead to skeletal deformity. Variants of this syndrome include the ‘stiff leg syndrome’ in which only one limb is involved and ‘pr
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Sonia Benítez-Rivero and Pablo Mir
23.1 Introduction The term ‘stiff person syndrome’ (SPS) was introduced by Moersch and Woltman in 1956 [1] to describe an unusual and previously unrecognised disorder characterised by progressive fluctuating muscular rigidity with superimposed episodes of more intense spasm [2–4]. Co-contractions of agonist and antagonist muscles and continuous involuntary firing of motor units at rest are the clinical and electrophysiological hallmarks of the disease [4, 5]. A significant development in this condition was the discovery of autoantibodies directed against glutamic acid decarboxylase (GAD), a protein that catalyses the decarboxylation of S. Benítez-Rivero Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Avda. Manuel Siurot s/n., Seville 41013, Spain e-mail: [email protected] P. Mir (*) Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Avda. Manuel Siurot s/n., Seville 41013, Spain Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Seville, Spain
L-glutamate to GABA and is widely expressed in presynaptic GABAergic terminals in the CNS [6]. This has led to a great increase in understanding the probable pathophysiological mechanisms underlying the disorder, prompting the suggestion that SPS is an autoimmune disease [2, 3, 5]. Greater awareness of the condition in recent years has also led to the recognition of different patterns of presentation of stiff person variants, but the classification of stiff persons remains confusing, with the reporting of an increasing number of overlapping syndromes [2]. The most established condition is the classical stiff person syndrome, first described by Moersch and Woltman. Stiff persons with ‘plus’ signs are reported to have a poorer treatment response and prognosis. Some of them have a paraneoplastic aetiology [6]. Clinically, stiff persons with ‘plus’ signs may be divided into the following groups according to the aggressiveness of the pathology and its relative distribution: • Subacute (death within 3 years, long tract signs present): ‘progressive encephalomyelitis with rigidity and myoclonus’ • Chronic (survival >3 years, long tract signs absent/few): includes the ‘jerking stiff person syndrome’ (brainstem form) and ‘stiff limb syndrome’ (spinal form)
© Springer-Verlag Wien 2017 C. Falup-Pecurariu et al. (eds.), Movement Disorders Curricula, DOI 10.1007/978-3-7091-1628-9_23
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S. Benítez-Rivero and P. Mir
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23.2 T he Classical Stiff Person Syndrome The classical SPS begins insidiously in patients in their mid-to-late 30s, usually without antecedent infection or other triggering factors [5]. The disease is characterised by paraspinal and abdominal rigidity with an exaggerated lumbar lordosis and superimposed episodi
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