Eating-induced facial myoclonic dystonia probably due to a putaminal lesion

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EATING-INDUCED FACIAL MYOCLONIC DYSTONIA observed, linkage to known loci for ICCA/PKC and PNKD could be excluded. Because the small size of this family limits chances of success for a genome-wide linkage screen, the combination with other families with a similar phenotype will be required for that purpose. This strategy will highly increase the probability of actually identifying the underlying genetic cause, which will also facilitate an appropriate phenotypical classification, given the broad spectrum of additional clinical features in addition to PED reported in familial and sporadic cases thus far. Acknowledgments: We thank all patients who participated in this study. This work was supported in part by the German Network for Hereditary Movement Disorders, GeNeMove (01GM0304), financed by the German Ministry for Research and Education.

LEGENDS TO THE VIDEO Segment 1. Segment 1 shows Patient IV-7 (M.K.) walking and, respectively, running in the interval between attacks. Segment 2. Segment 2 shows gradual appearance of symptoms of an attack of paroxysmal exercise-induced dystonia after prolonged exercise, with weakness and cramping/bending of both legs, partially also twisting of the ankles and stumbling. During the attack, the patient is unable to properly lift his feet from the ground. REFERENCES 1. Demirkiran M, Jankovic J. Paroxysmal dyskinesias: clinical features and classification. Ann Neurol 1995;38:571–579. 2. Munchau A, Valente EM, Shahidi GA, et al. A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study. J Neurol Neurosurg Psychiatry 2000;68:609 – 614. 3. Perniola T, Margari L, de Iaco MG, et al. Familial paroxysmal exercise-induced dyskinesia, epilepsy, and mental retardation in a family with autosomal dominant inheritance. Mov Disord 2001; 16:724 –730. 4. Plant GT, Williams AC, Earl CJ, Marsden CD. Familial paroxysmal dystonia induced by exercise. J Neurol Neurosurg Psychiatry 1984;47:275–279. 5. Kluge A, Kettner B, Zschenderlein R, et al. Changes in perfusion pattern using ECD-SPECT indicate frontal lobe and cerebellar involvement in exercise-induced paroxysmal dystonia. Mov Disord 1998;13:125–134. 6. Bing F, Dananchet Y, Vercueil L. [A family with exercise-induced paroxysmal dystonia and childhood absence epilepsy]. Rev Neurol (Paris) 2005;161:817– 822. 7. Bhatia KP, Soland VL, Bhatt MH, Quinn NP, Marsden CD. Paroxysmal exercise-induced dystonia: eight new sporadic cases and a review of the literature. Mov Disord 1997;12:1007–1012. 8. Guerrini R, Sanchez-Carpintero R, Deonna T, et al. Early-onset absence epilepsy and paroxysmal dyskinesia. Epilepsia 2002;43: 1224 –1229. 9. Neville BG, Besag FM, Marsden CD. Exercise induced steroid dependent dystonia, ataxia, and alternating hemiplegia associated with epilepsy. J Neurol Neurosurg Psychiatry 1998;65:241–244. 10. Fink JK, Rainer S, Wilkowski J, et al. Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q. Am J Hum Genet 1996;59:140 –145.


11. Szepetowski P, Rochette J, Berquin P, Piussan C, Lathrop GM, Monaco AP. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet 1997;61:889 – 898. 12. Bozi M, Bhatia KP. Paroxysmal exercise-induced dystonia as a presenting feature of young-onset Parkinson’s disease. Mov Disord 2003;18:1545–1547. 13. Bruno MK, Ravina B, Garraux G, et al. Exercise-induced dystonia as a preceding symptom of familial Parkinson’s disease. Mov Disord 2004;19:228 –230. 14. Katzenschlager R, Costa D, Gacinovic S, Lees AJ. [(123)I]-FPCIT-SPECT in the early diagnosis of PD presenting as exerciseinduced dystonia. Neurology 2002;59:1974 –1976. 15. Du W, Bautista JF, Yang H, et al. Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nat Genet 2005;37:733–738.

Eating-Induced Facial Myoclonic Dystonia Probably Due to a Putaminal Lesion Carles Gaig, MD, Esteban Mun˜oz, MD, PhD,* Josep Valls-Sole´, MD, PhD, Marı´a Jose´ Martı´, MD, PhD, and Eduardo Tolosa, MD, PhD Department of Neurology, Institut Clı´nic de Neurocie`ncies, Hospital Clı´nic i Universitari, IDIBAPS, Barcelona, Spain

Abstract: Myoclonic dystonia is considered a form of dystonia. We present the unusual case of a 36-year-old woman with HIV infection, who developed left facial myoclonic dystonia, triggered by eating in the setting of probable progressive multifocal leukoencephalopathy involving the contralateral basal ganglia. © 2007 Movement Disorder Society Key words: myoclonic dystonia; facial dystonia; basal ganglia lesion; secondary dystonia; progressive multifocal leukoencephalopathy

Dystonia is defined as an involuntary, sustained, patterned, and often repetitive muscle contraction that causes twisting movements or abnormal postures. Basal

This article includes Supplementary Video, available online at http:// *Correspondence to: Dr. Esteban Mun˜oz, Department of Neurology, Hospital Clinic of Barcelona, Villarroel, 170, 08036 Barcelona, Spain. E-mail: [email protected] Received 16 October 2006; Accepted 2 November 2006 Published online 8 February 2007 in Wiley InterScience (www. DOI: 10.1002/mds.21345

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ganglia dysfunction that causes an excessive abnormal motor output to the cortex is thought to occur in most cases of dystonia.1,2 Focal dystonia, such as blepharospasm, oromandibular dystonia, cervical dystonia or hand dystonia, is characterized by involvement of a single body part. Focal dystonia is frequently worsened or triggered by action, and in some cases only appears during certain specific tasks, like writing in writer’s cramp or playing musical instruments in musician’s cramps.1 These task-specific dystonias typically affect the hand but can occasionally involve oromandibular and lower face musculature like in embouchure dystonia, auctioneer’s jaw dystonia or praying induced dystonia.3–5 Most focal dystonias, including those task-specific, are frequently idiopathic but some cases can be related to focal brain lesions involving the basal ganglia, thalamus, or brainstem.1 When dystonic movements are very fast, resembling myoclonus, the term myoclonic dystonia is applied.1 Some authors propose that myoclonic dystonia should be differentiated from the syndrome of myoclonus-dystonia, an inherited disorder where myoclonus occurs in body parts not necessarily affected by dystonia.1 We describe a patient who presented with focal left facial myoclonic dystonia triggered by eating in the setting of a brain lesion involving the right putamen. CASE REPORTS A 36-year-old woman was referred to our outpatient clinic because of left lower face movements occurring while eating, which had started 1 year before. The abnormal movements were described by the patient as an intense and sustained mouth deviation to the left side that appeared just after she initiated chewing and disappeared a few seconds after she stopped it. It appeared every time she ate and, occasionally, while drinking. But they were not present at rest or during other actions like speaking, sucking, kissing, licking, or whistling. She did not complain of other symptoms like dysphagia, pain, or sensory disturbances. The patient had been diagnosed of HIV infection 7 years before and the movement disorder started when she was recovering from a clinical picture compatible with progressive multifocal leukoencephalopathy (PML), which was diagnosed after 2 months history of mild headache and progressive left lower facial palsy and weakness on the left limbs. At the moment of the PML diagnosis, the viral load was 2031 copies/mL and the CD4 cell count of 76 cells/␮L. Brain MRI performed at that time disclosed hyperintense lesions in T2 and DP sequences, without contrast enhancement, involving the right frontal and temporal lobar white matter, external

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FIG. 1. (A) Brain MRI showing a high intensity lesion in T2-weighted sequences involving the right temporal lobar white matter, external capsule, putamen, internal capsule, and thalamus. (B) Brain MRI performed 3 years later showing a residual lesion in T2-weighted sequences in the posterior part of the right putamen (arrows) and the external capsule.

capsule, lenticular nucleus, internal capsule, thalamus, and subthalamus (Fig. 1A). After antiretroviral therapy with lamivudine, zidovudine, ritonavir, and indinavir, the patient’s neurological condition improved within a few months, but then, the left lower face eating-induced movements developed gradually. Past medical history was irrelevant except for a cranial traumatism 7 years before, due to a car accident, which resulted in a left petrous temporal bone fracture associated to peripheral left facial palsy that resolved completely. There was no neuroleptic or other antidopaminergic drug intake. Family history was only remarkable for probable Parkinson’s disease in her father and grandfather. On clinical examination, rapid, brief, irregular, and intermittent mild myoclonic-like movements in her left perinasal, peribucal, or periocular muscles were occasionally observed at rest or during speaking. When she tried to eat solid food, intense and sustained contraction in her left perioral musculature appeared, causing left deviation of the mouth and effortful chewing (Video).


FIG. 2. Electromyographic recording with surface electrodes showing semirhythmical bursts at 14 to 18 Hz in the left orbicularis oris and masseter, associated to irregular burst of electromiographic activity lasting 100 to 300 milliseconds.

This facial contraction finished a few seconds after she stopped chewing and swallowing. However, it did not appear when she mimicked mastication without food intake or during speaking, sucking, whistling, or performing other actions involving her mouth muscles. Sensory stimulation of her tooth, tongue, gums, or oral mucosa did not induce abnormal movements. Otherwise, general neurological examination only disclosed a very mild residual weakness on the left limbs. Electromyographic recording with surface electrodes at rest showed occasional brief bursts that were asynchronous and irregular in the left orbicularis oris, masseter, orbicularis oculi, and zygomatic muscles. Recording during the time she had the abnormal facial movement after onset of mastication showed brief, rapid, continuous, and almost rhythmical bursts at 14 to 18 Hz in the left orbicularis oris and masseter, associated to irregular burst lasting 100 to 300 milliseconds (Fig. 2). Neurophysiological assessment showed normal blink reflex responses to trigeminal nerve stimulation, and jaw-jerk to mechanical taps to the mandible. Electroencephalographic studies, some of them performed while the patient was chewing, ruled out the presence of epileptiform activity. MRI studies demonstrated a progressive reduction in the size of the brain lesion. Thus, a new MRI, performed 3 years after, only showed a small residual hyperintense area in T2-weighted sequences in the posterior part of the left putamen and external capsule (Fig. 1B). Anticholinergic, sodium valpraote, and gabapentine treatments were not useful, but treatment with clonazepam 2 mg tid and carbamacepine 400 mg tid, together with botulin toxin A injections in the left masseter (20 units), left orbicularis oris (10 units), and left zygomatic muscles (5 units) caused a moderate improvement. DISCUSSION The movement disorder exhibited by the patient reported here could be clinically defined as myoclonic


dystonia triggered by mastication. Disorders that can cause abnormal unilateral involuntary movement of the jaw and face such as local mechanical disorders of the mandible or temporo-mandibular joint, tetany, tetanus and trismus, focal motor epilepsy, tonic spasms of multiple sclerosis, hemifacial spasm and hemimasticatory spasm with or without facial hemiatrophy6 were reasonably excluded by the clinical features and electrophysiological and MRI studies. The electromyographic study, however, did not only disclose the sustained muscular contraction that typically occurs in dystonia,1 but predominantly, the presence of brief semirhythmical bursts in the left orbicularis oris and masseter compatible with high frequency myoclonus. Although we cannot completely rule out that the past traumatic peripheral facial palsy had some role in the generation of the abnormal movements in our patient, we think that this is hardly unlikely because no electrophysiological signs of facial nerve damage were observed and the patient did not show synkinesis between hemifacial muscles during voluntary movements. The temporal profile of the abnormal facial movements suggests that they were related to a brain lesion due to probable PML. In addition, because the patient’s most recent MRI showed only a residual lesion involving mainly the contralateral putamen, we postulate that this is likely the lesion responsible for the abnormal facial movements in our patient. Movement disorders, including dystonia, are rare in PML, which usually affects the white matter. However, in some instances, PML can also involve the basal ganglia inducing extrapyramidal manifestations.7 Focal myoclonus-dystonia of the leg has been previously described in a patient with a putaminal lesion very similar to that of our patient.8 However, to our knowledge, the case reported here is the first in describing facial myoclonic distonia presumably due to a lesion involving the basal ganglia. Interestingly, in our patient, the abnormal movement appeared when she tried to masticate solid food but not when she simulated mastication without food intake. This suggests that abnormal processing of sensory inputs from oral mechanoreceptors could play a role in the pathophysiology of this movement disorder. Two cases of tongue and oromandibular dystonia triggered by eating have been previously reported.9,10 One of them was related to neuroleptic treatment and the other was of unknown cause. In these cases, a defective central nervous system control of sensory inputs has been suggested. Both, basal ganglia dysfunction2 and abnormalities in the processing and integration of somatosensory inputs have been implicated in the pathogenesis of dystonia.11

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Mastication is a rhythmic activity that could be under the control of certain brainstem neurons.12 Probably corticobulbar neurons initiates mastication, but later feedback from peripheral sensory afferents of diverse mucous, joint and muscle receptors are likely required to modulate the activity of these brainstem neurons.13 Basal ganglia may play an important role in sensorimotor integration and modulation of brainstem and spinal cord interneurons excitability during mastication.14,15 Internal globus pallidus and sustantia nigra pars reticulata project to the brainstem nuclei by several pathways. Sustantia nigra reticulata innervates the parvicellular reticular formation, which has direct projections to the trigeminal and facial nerve muscles involved in mastication.16,17 Rhythmic firing has been demonstrated in interneurons of the pontine reticular formation that project to brainstem motor nucleus involved in mastication.15 Thus, we postulate that our patient could have abnormalities in sensorimotor integration and lack of control of rhythmic firing of brainstem interneurons due to the injured basal ganglia. The combination of these abnormalities could lead to the clinical expression of eating-induced facial myoclonic dystonia. LEGEND TO THE VIDEO Segment 1. The patient does not have facial dystonic activity while speaking but shows occasional myocloniclike movements in her left perinasal and peribucal muscles at rest or during voluntary facial movements. Neither, is dystonia observed when she simulates mastication without food intake. Segment 2. Every time she tries to chew solid food sustained contraction in her left perioral musculature appeared, causing dystonic deviation of the mouth and difficulties in chewing. Facial contraction finishes immediately when she stops chewing. REFERENCES 1. Jankovic JJ, Fahn S. Dystonic disorders. In: Jankovic J, Tolosa E, editors. Parkinson’s Disease & Movement Disorders. Philadelphia: Lippincott Williams & Wilkins; 2002. p 331–357. 2. Berardelli A, Rothwell JC, Hallett M, Thompson PD, Manfredi M, Marsden CD. The pathophysiology of primary dystonia. Brain 1998;121:1195–1212. 3. Frucht SJ, Fahn S, Greene PE, O’Brien C, et al. The natural history of embouchure dystonia. Mov Disord 2001;16:899 –906. 4. Scolding NJ, Smith MS, Sturman S, Brookes GB, Lees AJ. Auctioneer’s jaw: a case of occupational oromandibular hemydistonia. Mov Disord 1995;10:508 –509. 5. Ilic TV, Po¨tter M, Holler I, Deuschl G, Volkmann J. Praying-induced oromandibular dystonia. Mov Disord 2005;20:385–386. 6. Thompson PD, Obeso JA, Delgado G, Gallego J, Marsden CD. Focal dystonia of the jaw and the differential diagnosis of unilateral jaw and masticatory spasm. J Neurol Neurosurg Psychiatry 1986;49:651– 656.

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7. Factor SA, Troche-Panetto M, Weaver SA. Dystonia in AIDS: report of four cases. Mov Disord 2003;18:1492–1498. 8. Mahant N, Cordato DJ, Fung VS. Focal myoclonus-dystonia of the leg secondary to a lesion of the posterolateral putamen: clinical and neurophysiological features. Mov Disord 2003;18:452– 455. 9. Lagueny A, Caix P, Schuermans P, Julien J. Jaw dystonia triggered by biting into hard food. Mov Disord 1991;6:174 –176. 10. Achiron A, Melamed E. Tardive eating dystonia. Mov Disord 1990;5:331–333. 11. Tinazzi M, Rosso T, Fiaschi A. Role of the somatosensory system in primary dystonia. Mov Disord 2003;18:605– 622. 12. Lund JP. Mastication and its control by the brain stem. Crit Rev Oral Biol Med 1991;2:33– 64. 13. Jean A. Brain stem control of swallowing: neuronal network and cellular mechanisms. Physiol Rev 2001;81:929 –969. 14. Masuda Y, Takafumi K, Hidaka O, et al. Neuronal activity in the putamen and globus pallidus of rabbit during mastication. Neurosci Res 2001;39:11–19. 15. Westberg K, Clavelou P, Sandstrom G, Lund JP. Evidence that trigeminal brainstem interneurons form subpopulations to produce different forms of mastication in the rabbit. J Neurosci 1998;18: 6466 – 6479. 16. Mogoseanu D, Smith AD, Bolam JP. Monosynaptic innervation of trigeminal motor neurones involved in mastication by neurones of the parvicellular reticular formation. J Comp Neurol 1993;336:53– 65. 17. Mogoseanu D, Smith AD, Bolam JP. Monosynaptic innervation of facial motoneurones by neurones of the parvicellular reticular formation. Exp Brain Res 1994;101:427– 438.

The Effect of Injecting Botulinum Toxin Type A Into the Calf Muscles on Freezing of Gait in Parkinson’s Disease: A Double Blind Placebo-Controlled Pilot Study Tanya Gurevich, MD,1,2 Chava Peretz, PhD,1,2 Orna Moore, RN, MA,1 Nina Weizmann, MD,1 and Nir Giladi, MD1,2* 1

Movement Disorders Unit, Parkinson Center, Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel; 2Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel

Abstract: Objective: To assess the effect on freezing of gait (FOG) of botulinum toxin type A (BTX-A) injections in advanced Parkinson’s disease (PD) patients. Method:

*Correspondence to: Nir Giladi, MD, Movement Disorders Unit, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv, Israel 64239. E-mail: [email protected] Received 6 December 2006; Accepted 10 December 2006 Published online 8 February 2007 in Wiley InterScience (www. DOI: 10.1002/mds.21396

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