Movement Disorders Vol. 5 , No. 4, 1990, pp. 352-355 0 1990 Movement Disorder Society

Letters to the Editor Multiple Sclerosis Occurring With Paroxysmal Unilateral Dystonia To the Editor: In 1958, Matthews (1) described four patients who had paroxysmal attacks as a sign of multiple sclerosis. These attacks were called “tonic seizures,” but later they were designated as paroxysmal dystonia (2). Recently, we extensively investigated, with magnetic resonance imaging (MRI), the condition of a patient with this typical phenomenon. A 28-year-old man without a medical history came to our attention because of attacks of cramps starting in his right hand and spreading to his right arm and also to his right leg. In the last 2 weeks, he had experienced about eight of these attacks, which lasted for a minute at the most. During the attacks, his consciousness was normal, he could speak, and afterward he had no complaints. He hadn’t used any medication lately. On neurological examination, deep tendon reflexes were brisker on the right side; no further abnormalities were found. Electroencephalography (EEG) (three times) showed some paroxysmal irregular activity (4-7 Hz) in both frontotemporal regions, but no epileptic activity. After 1-2 min of hyperventilation, the attacks could be provoked repeatedly; the EEG pattern then showed no significant changes. The attacks were characterized by rightward turning of the head and neck and spasms of the arm and hand with flexion at the elbow, wrist, and metacarpophalangeal joints, followed by flexion of the leg at the knee. During the attack, consciousness was not impaired and conversation was possible, although speech was slightly dysarthric. The attacks lasted approximately 30 s . Directly afterward, the patient had no complaints or neurological abnormalities. Visual evoked potentials demonstrated a prolonged latency of the left optic nerve, and brain stem auditory evoked potentials showed a prolonged latency of wave I1 and 111 on the right. Cerebrospinal fluid showed a normal white cell count and a normal protein content with an elevated gamma globulin fraction. After electrophoresis, an oligoclonal band in the gamma globulin fraction was seen. Computerized tomography revealed no abnormalities. The MRI showed some small irregular areas of elevated signal density in the white matter of the left and right hemispheres and in the cerebellum, and a major lesion in the left cerebral peduncle (Fig. 1). For 2 months, the patient was treated with carbamazepine, 600 mg daily, which completely suppressed the attacks. When the medication was stopped, the attacks did not return. Until now, 10 months later, no other symptoms occurred. Our patient’s attacks can best be described as paroxysmal dystonia (1-3). Because of the symptomatology of

FIG. 1 Magnetic resonance imaging slices showing a lesion in the left cerebral peduncle (A) and multiple lesions in the white matter of both hemispheres (B).

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LETTERS TO THE EDITOR the attacks and the absence of epileptic activity on EEG during the attacks, we prefer this term over tonic seizures (1). The attacks seem to be relatively more frequent in Japanese patients with multiple sclerosis (4). They can occur during the course or as an initial symptom of the disease (1,3). In our patient, the attack could be provoked repeatedly by hyperventilation; other provoking factors previously described in the literature are startling noise, tactile stimulation, voluntary or passive movement of the extremities, and flexion of the neck. Pain may precede the paroxysmal dystonia in the ipsilateral or contralateral limb (4) or occur during the attack. There may be associated autonomic disturbances such as profuse perspiration, piloerection, flushing of the face, and hyperactive bowel (3,4). Occurring as an initial symptom, it can be a diagnostic dilemma; symptoms of multiple sclerosis can develop from several days to 10 years after the onset of the attacks (2). In general, the attacks recur over 2 months. Carbamazepine seems to be the most effective therapy ( 2 ) . Our patient hasn’t suffered from any other signs or symptoms thus far. Because of the abnormalities of the evoked potentials (visual and auditory), the elevated gamma globulin fraction with an oligoclonal band, and the MRI findings, one can speak of an MRI- and laboratory-supported definite multiple sclerosis (9,which is by some interpreted as definite multiple sclerosis (5). Different hypotheses about the pathogenesis of the attack have been postulated (3). Our findings, especially of the MRI, which clearly shows a lesion in the left cerebral peduncle, are in favor of the theory of transversely spreading ephaptic transmission in partially demyelinated fibers in the brainstem (3). G. A. M. Verheul C. C. Tyssen Department of Neurology St. Elisabeth Hospital Tilburg, The Netherlands

References 1. Matthews W. Tonic seizures in disseminated sclerosis. Brain

1958;81 :193-206, 2. Berger J, Sheremata A, Melamed E. Paroxysmal dystonia as the initial manifestation of MS. Arch Neurul 1984;41:747750. 3. Osterman P, Westerberg C. Paroxysmal attacks in the MS. Bruin 1975;98:18!9-202. 4. Shibasaki H, Kuroiwa Y . Painful tonic seizure in MS. Arch Neurul 1974;30:47-51. 5. Paty DW, Oger JJ, Kastrukoff LF, et al. Biologic versus clinical MS [Letter]. Neurology 1989;39:151.

Head Tremor After a Remission of Spasmodic Torticollis To the Editor: Rivest and Marsden (1) reported a number of cases in which tremor of the head and trunk occurred before the onset of dystonia. They concluded that tremor in these cases may actually be an initial presenting feature of focal dystonia and not essential tremor. In this letter, I present

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another scenario that further supports the notion that tremor may occur as an isolated manifestation of torticollis. The patient is a 41-year-old right-handed woman who had a history of torticollis starting at the age of 29. At that time, she injured the left side of her neck while lifting her 10-year-old son. Within a few months, she was unable to turn her head to the left and later noted that her head was involuntarily turning to the right. The rotation of the head was initially intermittent and worsened with stress. It continued and became more constant over the next 8 years. After 8 years, the torticollis went into spontaneous remission, and for 1 full year she had perfectly normal function of her neck with no involuntary movements or restriction of motion. Approximately 3 years before being seen, she began having tremor of her head. It was initially intermittent but then gradually became more constant. She initially could control it to some extent but lost her ability to do so within the first year. Stress made the tremor worse. She noted that tremor actually worsened when looking to the left. With time, she began to notice some spasm and pain in her paraspinal muscle area. She also began to notice a sensation of her head being pulled to the right; however, she was unaware of the presence of torticollis. She had no tremor of her hands or voice. She had no dystonia in other extremities. She did note that alcoholic beverage did seem to improve her tremor. She also found that caffeinated beverages would worsen her tremor. Other than a history of hypothyroidism, which was treated with Synthroid, she has no other medical history. There is a possible history of tremor in a sister, but no other history of movement disorders, including dystonia. On examination, she had a horizontal head tremor. It worsened with the stress of examination. When she became more relaxed, it seemed to diminish some. She also had a slight lateral flexion of the head to the left and rotation to the right. This was minimal. There were no spasmodic aspects to this. She had no tremor of her hands or voice. The rest of her neurologic exam was perfectly normal. She was treated with propranolol and is currently on the long-acting formulation at 160 mg per day. This has been quite helpful in controlling the tremor. In the patients described by Rivest and Marsden (l), all had tremor as an initial presentation. This was later accompanied by or developed into focal dystonia. In my patient, dystonia occurred first and was followed by a spontaneous remission after 8 years. The remission was then followed by tremor, and later a milder form of her focal dystonia (spasmodic torticollis) returned. Remissions with torticollis occur in -12% of patients, and the remissions usually end with a recurrence of the torticollis (2). In my patient, the remission lasted 1 year and ended with the occurrence of a horizontal tremor and not torticollis. The tremor was later accompanied by an extremely mild form of torticollis with lateral flexion to the left and rotation to the right, which was not even noticed by the patient. Despite the patients’ response to propran0101, the relation of tremor to torticollis and the similarity of her tremor to that described by Rivest and Marsden indicate that this is the same phenomenon. This case further supports the notion that head tremor may be an isolated manifestation of spasmodic torticollis. It also indi-

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cates that tremor may not be the initial manifestation but instead could emerge as a manifestation of a recurrence of torticollis after spontaneous remission. Stewart A. Factor

Albany Medical College Department of Neurology Albany, New York, U.S.A. References 1 . Rivest J, Marsden CD. Trunk and head tremor as isolated manifestations of dystonia. Movement Disorders 1990;5:6&5. 2. Friedman A, Fahn S. Spontaneous remissions in spasmodic torticollis. Neurology 1986;36:398-400.

Writing Tremor and Writing Dystonia To the Editor: I read the article by Elble and colleagues (1) with interest. These authors presented five patients with prominent tremor on writing but also additional features (clinical and electrophysiological) that supported the classification of the movement disorder in these cases as a dystonia rather than a forme fruste of essential tremor. I have seen a mother and son who provide further support for this argument. The proband was a 38-year-old man who developed writing difficulties at the age of 14. At this time, he described his writing as becoming large, scrawling, and tending to slant diagonally. Over the next 3 years, writing became progressively smaller and “cramped.” For a period of 2 years, the trick of everting, hyperextending, or hyperflexing the wrist while holding the pen allowed him to write. Later, placing the pen between the index and middle fingers again provided temporary improvement. In 1980, a course of biofeedback improved the writing. However, about this time, he also noted a tremor in his right upper extremity only while writing. He had attempted to write with the left hand. However, after a period of 2 months, he found that the same “cramping” and, occasionally, tremor became evident. The tremor on writing with the right hand became prominent when he returned to write with this limb after unsuccessfuilly switching to the left. He denied any interference (tremor or dystonia) with other motor tasks. On examination (videotape segment l), there was no tremor or dystonia seen during various examination maneuvers. Writing with the right hand resulted in a tremor that involved the forearm and fingers at a rate of -46 Hz.The forearm tremor was predominantly a pronatiod supination variety, whereas the finger tremor, particularly affecting the thumb, resulted in flexiodextension movements. There was no apparent excessive contraction of the fingers on the pen or abnormal dystonic posturing of the wrist or upper arm. Holding the pen like a dagger lessened the tremor but brought out a dystonic extension of the thumb. Returning to the original writing technique resulted in even further exaggeration of the tremor. However, again dystonic posturing was not seen. Writing with the left hand resulted in dystonic contractions causing the fingers to slide downwards on the pen and the wrist and fingers to partially pronate. The patient’s mother had developed difficulty writing at the age of 17. Because of progressive difficulties writ-

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ing with the right hand, she switched to the left at the age of 35. However, within 5 years, a similar difficulty occurred on that side. Since the age of 45, she had noted mild interference with other tasks using the right hand such as cutting food or bringing a cup to the mouth. On examination, at the age of 65 (videotape segment 2), there was no postural tremor or dystonic posture in the outstretched limbs. However, bringing a cup to the mouth did demonstrate dystonic posturing in the right arm and wrist. Writing with the right hand demonstrated typical dystonic writer’s cramp with no significant tremulous component. On the left, the motor disorder combined obvious dystonia and tremor seen only during writing. This mother and son provide further support for classifying some cases of primary writing tremor as a form of focal dystonia. The mother demonstrates bilateral actioninduced dystonia that is predominantly task-specific and that has an additional tremulous component on the left side. Her son has pure bilateral action-specific movement disorders. The symptoms beginning on the right, by history, are typical of dystonia, and this is clearly the motor disturbance found on the left. However, clinical assessment of the motor disorder on the right demonstrates what appears to be a task-specific writing tremor in the absence of dystonic movements or posturing. The trick of holding the pen in a different fashion and the movements of the thumb seen at this time more convincingly classify the problem as dystonia. However, when the patient returns to writing again in the normal fashion, one would be hard pressed to describe the movement seen as anything but a pure writing tremor. The patients described by Elble et al. (1) demonstrated “subtle dystonic contortions” that were often not fully appreciated until electromyographic assessment. Even knowing the nature of my patient’s additional motor disturbances and those of his mother, it is difficult to convince oneself of the presence of a dystonic component on the right on isolated routine clinical assessment of his writing. This further supports the need for electrophysiological analysis as described by Elble et al. (1) in these difficult patients.

Legends to the Videotape Segment 1. Examination of the proband a t age 38. Segment 2. Examination of t h e proband’s 65year-old mother. Anthony E. Lang Movement Disorders Clinic Toronto Western Hospital Toronto, Ontario, Canada References 1 . Elble RJ, Moody C, Higgins C. Primary writing tremor: a form of focal dystonia? Movement Disorders 1990;5:118-26.

To the Editor: We wish to comment on What is it? Case 1, in volume 4, pages 363-370. A 27-year-old man with a 12-year history of a progressive movement disorder beginning at age 15 is described. The clinical picture was that of a mixed movement disorder with elements of parkinsonism, chorea, and dystonia as well as pyramidal signs, although

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LETTERS TO THE EDITOR hyporeflexia had been noted at age 25. The final diagnosis given was juvenile Huntington’s disease (HD), but we are not fully convinced that this was necessarily correct. First, it would be most unusual for a juvenile HD patient with this onset and duration 6 months from the end of his illness to be fully orientated with good recall and normal calculation and language as described. Second, the account of the exhaustive battery of investigations, including bifrontal brain biopsies, makes no mention of repeated examination of fresh blood films for acanthocytes. Third, HD is not known to cause symmetrical linear streaks of increased signal on TZweighted magnetic resonance imaging (MRI) sequences in the lateral putamen, but this appearance has been found in four cases of neuroacanthocytosis (NA) undergoing MRI at this institution (1). Fourth, the pathologic appearance of NA is almost indistinguishable from that of HD, as we and others have found. Neuroacanthocytosis is often familial, but has extremely variable penetrance, so that some apparently sporadic cases may actually be familial. Thus, for example, acanthocytes may be found in the peripheral blood of some asymptomatic family members. Moreover, the disease may manifest itself as psychiatric illness without apparent neurological deficit. Normal serum creatine kinase activity and peripheral neurophysiology does not exclude NA, and clinical signs of pyramidal tract involvement may occur. Moreover, acanthocytes may not be identified on every occasion they are sought, so that careful examination of repeated blood films is necessary (2). While it is certainly possible that this case was juvenile HD, we would not consider the case proven since NA was not excluded in life. If this individual’s DNA was stored, a follow-up note when gene-specific testing is available would be of interest Niall Quinn Richard Hardie University Department of Clinical Neurology institute of Neurology, Queen Square London, England

References Hardie RJ, Pullon HWH, Harding AE, et al. Neuroacanthocytosis-a clinical, haematological and pathological study in 19 cases. Bruin (in press). 2. Hardie RJ. Acanthocytosis and neurological impairment. Q 1.

(present in about 80% of neuroacanthocytosis) (2), evidence of neuropathyfamyotrophy, or an elevated CPK (seen in most cases). Moreover, in our experience, the severity and type of his illness with an age of onset of 15 is much more compatible with juvenile Huntington’s disease (the akinetic-rigid type) than with neuroacanthocytosis. In neuroacanthocytosis, severe parkinsonism tends to occur in adult-onset cases. Although the patient was fully oriented and calculated simple mathematical questions well on our initial examination, formal neuropsychologic testing, as described in the text of the case report, showed the patient’s vocabulary to be functioning at an age equivalency of 12 years, and the mathematics at about 9 years. It is interesting that Quinn and Hardie have noted linear streaks of increased signal on TZweighted magnetic resonance images of patients with neuroacanthocytosis, but we feel this finding is rather nonspecific and we do not place too much weight on it. Quinn and Hardie suggest that fresh blood smears should be looked at repeatedly to exclude the diagnosis of neuroacanthocytosis. We did look at the patient’s fresh blood smear on admission and did not find acanthocytes. We apologize for leaving out this information from the case description. We did not repeat the smear as Quinn and Hardie suggested and perhaps this should have been done. However, we opted not to repeat the blood smear because the clinical features were not highly suggestive of neuroacanthocytosis. Last, the pathologic appearance indeed can be indistinguishable in both cases (3). They may be different neurochemically, however. For example, activities of glutamic acid decarboxylase and choline acetyltransferase are severely decreased in the striatum of Huntington’s disease, whereas they seem only slightly diminished in neuroacanthocytosis (3,4). We have not performed biochemical analysis of our case but plan to do so in the near future. In summary, we agree with Quinn and Hardie that neuroacanthocytosis is an important consideration in the differential diagnosis of our case. Clinical features and supporting laboratory data, however, are in favor of the diagnosis of Huntington’s disease. Future genetic testing and biochemical analysis of the frozen half brain could provide firmer ground for our diagnosis. Un Jung Kang Stanley Fahn Dept. of Neurology

J Med 1989;71:291-306.

What Is It? Commentary To the Editor: Quinn and Hardie raise an important point in the differential diagnosis of our “What is it?” Case 1. Indeed, neuroacanthocytosis is probably the second most common hereditary chorea after Huntington’s disease (1). As pointed out by Quinn and Hardie, patients with neuroacanthocytosis usually have chorea, tics, feeding dystonia, seizures, amyotrophy, areflexia from axonal neuropathy, high serum creatine phosphokinase (CPK) level, and most important, acanthocytes on fresh peripheral blood smear. Parkinsonism and mental changes are less frequent. Our patient did not have feeding dystonia

Columbia-Presbyterian Medical Center New York, New York, U.S.A.

References Fahn S. Choreic disorders. Curr Opin Neurol Neurosurg 1989;2:319-323. Brin MF, de Yebenes J, Fahn S. Neuroacanthocytosis (Levine syndrome). Curr Opin Neurol Neurosurg 1988;l: 332-334. Bird TD, Cederbaum S, Valpey RW, Stahl WL. Familial degeneration of the basal ganglia with acanthocytosis: a clinical neuropathological and neurochemical study. Ann Neurol 1978;3:253-258. de Yebenes JG, Brin MF, Mena MA, et al. Neurochemical findings in neuroacanthocytosis. Movement Disord 1988; 3:330-312.

Movement Disorders, Vol. 5 , No. 4, 1990