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Pathogenesis of Dystonia: Is It of Cerebellar Or Basal Ganglia Origin? Ryuji Kaji,1 Kailash Bhatia,2 Ann M Graybiel3

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Pathogenesis of Dystonia: Is It of Cerebellar Or Basal Ganglia Origin? Ryuji Kaji,1 Kailash Bhatia,2 Ann M Graybiel3 JNNP Online First, published on October 31, 2017 as 10.1136/jnnp-2017-316250 Movement disorders J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp-2017-316250 on 31 October 2017. Downloaded from REVIEW Pathogenesis of dystonia: is it of cerebellar or basal ganglia origin? Ryuji Kaji,1 Kailash Bhatia,2 Ann M Graybiel3 ► Additional material is ABSTRACT treatment altered muscle afferents. Diluted local published online only. To view Dystonia is a disorder of motor programmes controlling anaesthetics block first nerve fibres with the smallest please visit the journal online diameters. If injected diffusely into a muscle, they (http:// dx. doi. org/ 10. 1136/ semiautomatic movements or postures, with clinical jnnp- 2017- 316250). features such as sensory trick, which suggests predominantly affect the gamma efferent fibres sensorimotor mismatch as the basis. Dystonia was that innervate the spindles. Thus, this manoeuvre 1Department of Neurology, originally classified as a basal ganglia disease. It is desensitises the spindles and secondarily blocks the Tokushima University School of now regarded as a ’network’ disorder including the muscle afferents (muscle afferent block or MAB).7 Medicine, Tokushima, Japan 2Sobell Department of cerebellum, but the exact pathogenesis being unknown. This effect of diluted lidocaine injected into Movement Neuroscience, UCL Rare autopsy studies have found pathology both dystonic muscles has also been explored, and Institute of Neurology, London, in the striatum and the cerebellum, and functional MAB abated the abnormal contractions, although UK 8 3 disorganisation was reported in the somatosensory temporarily. The tonic vibration reflex (TVR) is a Department of Brain manoeuvre to activate muscle spindle afferents by and Cognitive Sciences, cortex in patients. Recent animal studies showed Massachusetts Institute of physiologically tight disynaptic connections between the applying high-frequency, large-amplitude vibra- Technology McGovern Institute cerebellum and the striatum. We review clinical evidence tory stimulation to the belly of the muscle or to the for Brain Research, Cambridge, in light of this new functional interaction between associated tendon. If the TVR is tested for the limb Massachusetts, USA the cerebellum and basal ganglia, and put forward a affected by dystonia, it indeed reproduces dystonic hypothesis that dystonia is a basal ganglia disorder that contractions without the subject’s intention to Correspondence to perform the task with the affected limb (online Dr Ryuji Kaji, Departmentof can be induced by aberrant afferent inputs from the Neurology, Tokushima cerebellum. supplementary video: segment 3). The exact neural University, Tokushima770-8503, pathways affected in the TVR are unknown, but Japan; rkaji@ clin. med. the reflex is considered as subcortical, as cortical copyright. tokushima- u. ac. jp lesions do not abolish it.9 These findings suggest INTRODUCTION Received 21 April 2017 that dystonic movements or postures are already Revised 27 September 2017 Dystonia is a syndrome of sustained muscle contrac- preprogrammed in a subcortical circuit even at rest, Accepted 8 October 2017 tions frequently producing twisting, repetitive or forming an abnormal sensory versus motor link 1 patterned movements or abnormal postures. It (figure 2) 2 often starts in a task-specific context. For instance, Subsequent functional studies focused attention a patient with writer’s cramp, a focal dystonia, has to the disorganisation of the primary somatosen- difficulty in writing, but the performance of other sory cortex,10 raising much interest in the sensory elaborate tasks, such as using chopsticks, remains aspects of dystonia.11 Further studies demon- intact (online supplementary video: segments 1 and strated abnormal temporal discrimination in the http://jnnp.bmj.com/ 2). These tasks are normally performed semiauto- affected limb,12 impaired cortical inhibition of the matically with little intentional effort of the subject. surrounding muscles (surround inhibition13) and This characteristic implies a subconscious mech- maladaptive cortical plasticity as shown by priming anism of activating a set of muscles specific for a sensory stimuli and the associated motor excitability 3 particular automatic task (a motor subroutine). (paired associated stimulation),14 which are func- Historically, this disease had been treated as a tional hallmarks of focal dystonias. It is not fully 4 psychogenic or functional disorder, partly because understood whether these cortical findings reflect of the clinical feature of sensory trick, in which the primary or compensatory events in the genesis of on September 28, 2021 by guest. Protected patient can benefit from particular cutaneous or dystonia. proprioceptive sensory inputs usually unrelated to 5 performing the task or maintaining the posture Lessons learnt from X-linked recessive dystonia- (figure 1). This trait, however, gave a clue to the parkinsonism and dopa-responsive dystonia understanding of its pathophysiology as a mismatch (DRD) of sensory input versus motor output for the task or X-linked dystonia-parkinsonism (XDP or DYT3) the posture. is a neurodegenerative disease affecting the basal ganglia and is endemic in the Panay Island in the Is dystonia a sensory disorder? Philippines. Its clinical features typically appear To cite: Kaji R, Bhatia K, Muscle afferents are the major inputs for kinesthetic in the mid-30s as a focal dystonia followed within Graybiel AM. J Neurol sensation, and spindle afferent pathways project several years by parkinsonism.15 Autopsy studies in Neurosurg Psychiatry Published Online First: [please densely to the cerebellum via spinocerebellar tracts. the early dystonic stage showed patchy lesions in 6 include Day Month Year]. Almost a century ago, Walshe reported that a the striatum, and those in the later parkinsonian doi:10.1136/jnnp-2017- diluted local anaesthetic can improve akinesia in a phase exhibited total atrophy of the entire dorsal 316250 man with Parkinson’s disease, reasoning that this striatum similar to multiple systems atrophy.16 Kaji R, et al. J Neurol Neurosurg Psychiatry 2017;0:1–5. doi:10.1136/jnnp-2017-316250 1 Copyright Article author (or their employer) 2017. Produced by BMJ Publishing Group Ltd under licence. Movement disorders J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp-2017-316250 on 31 October 2017. Downloaded from reported to occur in XDP could lead to disinhibition of dopa- mine release with relative direct pathway predominance, which could account for dystonia (figure 2). DRD23 or Segawa disease (DYT5) seems contradictory to a theory of dystonia based on an overabundance of dopamine, because DRD readily responds to l-dopa treatment. Sato and colleagues24 resolved this issue by examining the striosome and matrix compartments immunohistochemically in a mouse model of DRD. Using tyrosine hydroxylase (TH) staining, they found early selective loss of TH immunostaining in striosomes, suggesting that a lack of nigrostriatal dopamine D1 input to the striosomal MSNs could produce deficient GABAergic inhibition of neurons in the substantia nigra pars compacta with relative direct pathway predominance in the matrix, where TH activity remains intact. A single autopsy report of patient with DYT5 also showed striosomal decrease of TH staining, lending support to this hypothesis.25 Is dystonia a cerebellar disorder? It has been reported that dystonia could be the presenting symptom in the spinocerebellar ataxias (SCA2, 3, 6 and 17). Among these, SCA6 is associated with pathology confined to the cerebellum. Furthermore, cerebellar atrophy or signs have Figure 1 A classical picture of sensory trick (geste antagoniste) in been noted in late-onset dystonia.26 A family with marked cere- spasmodic torticollis.5 Left: without trick. Right: abnormal posture is bellar atrophy presenting predominant dystonia has also been corrected by placing the right hand on the hip bone and touching the chin described.27 Miyamoto and colleagues28 reported an autopsy with the left hand. study of such a family. The patient presented mostly with gener- alised dystonia that partially responded to deep brain stimulation (DBS) of the globus pallidus internus (GPi). The pathological Detailed immunohistochemical studies have suggested that the finding was pure cerebello-olivary degeneration with no abnor- copyright. striatal projection neurons (medium spiny neurons (MSNs)) malities in the basal ganglia. The fact that DBS was effective indi- affected in the early dystonic phase of the disease likely are cates that the basal ganglia dysfunction, if any, is downstream located in striosomes, a neurochemically defined compartment effects of the cerebellar lesion. in the striatum, as opposed to the striatal matrix, for which a Animal studies also provided clues to the cerebellar involve- marker (calbindin) remained (figure 2). No recognisable abnor- ment in dystonia. DYT1 model mice exhibit increased energy malities were observed in the cerebellum in these cases. metabolism in the olivocerebellar network.29 Phenotypes of These findings drew attention to the three-compartment pharmacologically or genetically modified animal models of model of the basal ganglia circuit.17 The striosomes and the cerebellar origin are markedly aggravated by the dysfunction of matrix are the major neurochemically defined compartments the basal ganglia.30 Conversely, dystonic features are improved of the striatum. It is mainly the large
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