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An Iranian family with congenital myasthenic
syndrome caused by a novel acetylcholine receptor
mutation (CHRNE K171X)

P Soltanzadeh, J S Müller, A Ghorbani, A Abicht, H Lochmüller and A Soltanzadeh J. Neurol. Neurosurg. Psychiatrydoi:10.1136/jnnp.2004.059436 Updated information and services can be found at: References
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Articles on similar topics can be found in the following collections To order reprints of this article go to: Journal of Neurology, Neurosurgery, and Psychiatry J Neurol Neurosurg Psychiatry 2005;76:1039–1042 dystonia after pallidal stimulation or palli- thoracic kyphosis, he could not be placed in a head coil or neck quad. We therefore obtained a pre-operative CT scan for ‘‘indivi- tomies in Parkinson’s disease, the target for dual targeting’’. The coordinates of a target in the posteroventral globus pallidus (GP) were slightly different—that is, more lateral in different activity of the GpE. More study into Tardive dyskinesia (TD) is a well known side effect of neuroleptic drug treatment, and may ventricle width 6 mm, AC-PC 25 mm long)).
Department of Neurosurgery, Medical Spectrum coexist with tardive dystonia.1 It can be Five lesions were made at 8, 6, 4, and 2 mm, treated with several drugs, although they and on target at 82˚for 60 s. As this did not rarely lead to a complete removal of symp- result in a satisfying improvement of dyski- toms. The main treatment of TD consists of Department of Neurology, Academic Medical Center, gradual neuroleptic drug dose reduction and inserted 2 mm lateral to the first target point.
Nevertheless, in 40% of TD cases, symptoms A second series of lesions was performed as above, which resulted in a complete disap- Department of Neurology and Movement Disorder Unit, Medical Spectrum Twente, Enschede, The TD.3 In severe cases of TD and dystonia, this can lead to significant amelioration of abnor- reduced by 95%. The patient was discharged Department of Psychiatry, Medical Spectrum Twente, from hospital 7 days after the operation, after withdrawal of phenytoin, dexamethasone,and ciprofloxacin. The post operative UDRS score was 2, and dyskenesia measured with Unit of Functional Neurosurgery, Institute of We report a 51 year old, chronically hospita- lised man with a 29 year history of schizo- Correspondence to: Dr H P J Buschman, Department phrenia. During this period, he was treated the midline in the calculated target point in of Neurosurgery, Medisch Spectrum Twente, PO Box successfully for his psychotic symptoms with the left GPi. One year after this pallidotomy, 50 000, 7500 KA Enschede, The Netherlands; depot haloperidol and cisordinol. In 1993, he the patient was functioning very well. He was developed TD. Initially it consisted of an very content with the nearly complete aboli- involuntary tic (myoclonus-like movements tion of TD, which allowed him again to paint, of the orofacial muscles), referred to in the travel, and visit his family. Now, 5 years after literature as tardive tic.5 Both hands showed the operation, he is still functioning very well, with no signs of recurrence of dyskinesia and left hand less pronounced than the right, and there was severe acathisia. Haloperidol treat- 1 Burke RE, Fahn S, Jankovic J, et al. Tardive psychosis relapsed. Other medications tried dystonia: late-onset and persistent dystonia In this case report, we describe the outcome dexetimide (1.5 mg/day), oxazepam (50 mg/ of posteroventral pallidotomy in a patient 2 Gerlach J, Casey DE. Tardive dyskinesia. Acta with drug induced TD. As more experience is 3 Wang Y, Turnbull I, Calne S, et al. Pallidotomy for gained,3 4 posteroventral pallidotomy, a pro- tardive dyskinesia. Lancet 1997;349:777–8.
cedure with documented effects on parkin- the psychosis and the TD temporarily, but sonian dyskinesias and dystonia, seems to be an effective treatment to improve or abolish antipsychotic induced tardive dyskinesia and progressed to involve choreo-athetotic move- effect is not only apparent immediately and ments, most pronounced on the right side of during the first months after pallidotomy, but 5 Kurlan R, Kersun J, Behr J, et al. Carbamazipine the body and the midline. The patient also as is shown in this patient can be maintained induced tics. Clin Neuropharmacol1989;12:298–302.
the jaws, tongue, lips, neck, and upper chest Gpi target localisation was based on CT as muscles, leading to improper and irregular an MRI was anatomically not possible. Ths breathing, involuntary grumbling, production would have been a good case for microelec- of uncontrollable noises, and frequent peri- trode recording, which at the time was not ods of pain in the chest. There was dysarthria, available at our hospital. Instead, we overlaid but no abnormal swallowing. He could walk, two CT images, taken parallel to the AC-PC but only in a very dyskinetic manner. Socially line to enhance contrast, and compared them Huntington’s disease and Wilson’s disease Acetylcholine receptor (AChR) deficiency is effective, series of lesions we targeted the Dystonia Rating Scale (UDRS) Revised score was 24. Dyskenesia and dystonia, as scored Parkinson’s disease, very often a very small deficiencies are caused by mutations in the lesion in the Gpi can immediately be very coding region of the AChR epsilon subunit.1 Scale (UPDRS) were rated as 4 for both.
successful; however in this our patient such a We report an Iranian Muslim family from the ‘‘parkinson GpI lesion’’ had no immediate province of Eastern Azerbaijan (Maragheh) ment, and onset of a rapid deterioration in visible effect. This does not exclude the in which three of five offspring of consangui- possibility that over a longer period of time neous parents had early onset CMS arising the body, we decided on left sided poster- positive postoperative results could have evolved, as is often observed in patients with epsilon subunit of the AChR; this mutation has been identified homozygously in all the frequency repetitive nerve stimulation. Anti- of other patients, including Europeans, with three sibs. This is the first report of an AChR AChR antibodies were negative in all affected AChR epsilon mutations.1 Although congeni- tal joint contractures have not been pre-viously reported in CMS patients with AChRepsilon mutations, one of our cases (case 3) had mild flexion contracture of her left knee, The affected brother (case 1) was 23 years old All 12 exons, adjacent intronic regions, and although, in contrast to patients with RAPSN and the affected sisters were 19 (case 2) and mutations, none of our cases had arthrogry- 16 (case 3) years old. The unaffected brother posis multiplex congenita.1 5 A distinguishing was 21 and the healthy sister was 13 years feature in cases 1 and 3 was the presence of old. There was no history of miscarriage or fied by PCR. PCR amplified fragments were asymmetric elbow hyperlaxity. Joint laxity infant mortality in the family, although, has not been previously reported in any type mother, fetal movements were decreased in sequenced with an Applied Biosystems model all the affected sibs and case 1 had a difficult 3100 Avant DNA sequencer and fluorescence fetal hypotonia in the presence of intrauter- labour. The clinical diagnosis of CMS in this labelled dideoxy terminators (Perkin-Elmer, ine biomechanical forces might have influ- family had been made first in 1996. All cases presented with neonatal hypotonia, regurgi- tation, ptosis (case 1 developed ptosis at the It seems that the incidence of CMS in Iran age of 6 months), and delayed motor mile- digest of PCR products in the patients and the is similar to that in other countries. Recogni- stones. The course of the disease had been healthy siblings. A 304 bp fragment contain- tion of differing features of CMS could help slowly progressive, transiently exacerbated by establish a definite genetic diagnosis and help implement appropriate measures.
prednisone for 1 year yielded no improve- ment. There was positive response to pyr- digest yields 218, 71, and 15 bp fragments for the wild type allele. The mutation K171X We thank the patients and their family for their required doses had gradually been increased.
introduces a new BfaI restriction site, there- There were no other affected relatives in the fore resulting in fragments of 153, 71, 65, and On clinical examination, all patients were Department of Neurology, Tehran University of (511ART) in all three affected siblings. The limited eye movements. The bulbar muscles Molecular Myology Laboratory, Friedrich-Baur- Institute, Department of Neurology, Ludwig- available for genetic analysis. The mutation causes a premature translation stop in exon 6 difficulties, and bilateral facial weakness.
of the epsilon subunit of the AChR. Position Pupillary response to light was normal.
171 is located in the N-terminal extracellular Department of Neurology, Tehran University of domain of the epsilon subunit protein. The proximal. Cases 1 and 3 had a waddling gait, mutation has not been previously described especially in the afternoons. Deep tendon reflexes were normal. There was no muscle Molecular Myology Laboratory, Friedrich-Baur- Institute, Department of Neurology, Ludwig- wasting, scapulae alatae, scoliosis, or respira- tory distress. No hospitalisations for respira- Severe endplate AChR deficiency can result tory problems were reported. Case 1 had left from different types of recessive mutations in elbow hyperlaxity and case 3 also revealed Department of Neurology, Tehran University of identified in this family lies in the N-terminal severe on the left side). Case 3 had mild region of the epsilon subunit, a putative flexion contracture of her left knee.
translation product would not be inserted Department of Neurology, Shariati University into the membrane and expressed at the cell Electromyography of nasalis muscles showed Hospital, Kargar-Shomali Avenue, Tehran 14114, surface. Another possibility is the degrada- decrements (60%, 53%, and 35% in cases 1, 2, containing a premature stop codon in exon 6 by nonsense mediated decay. Therefore, wehypothesise that the K171X mutation leads to This work was supported by grants from the Deutsche a deficiency of AChR at the endplate.
Forschungsgemeinschaft (DFG) to HL and AA. JSM receives a scholarship from the Boehringer IngelheimFonds.
AChR epsilon subunit are said to be acommon mutations leading to receptor deficiency at the endplate. However, cases of homozygous 1 Burke G, Cossins J, Maxwell S, et al. Distinct nonsense mutations, as reported in our case, phenotypes of congenital acetylcholine receptor are rather rare compared to the number of epsilon subunit mutations have not yet been 2 Middleton L, Ohno K, Christodoulou K, et al.
Chromosome 17p-linked myasthenias stem from reported from Iran, despite the high rate of defects in the acetylcholine receptor epsilon- consanguineous marriages in the country.
subunit gene. Neurology 1999;53:1076–82.
3 Goldhammer Y, Blatt I, Sadeh M, et al.
has been reported in Iranian and Iraqi Jews,3 Congenital myasthenia associated with facial malformations in Iraqi and Iranian Jews: a new genetic syndrome. Brain 1990;113:1291–306.
analysis of the Iranian CMS family. The affected box element within the promoter region of 4 Ohno K, Sadeh M, Blatt I, et al. E-box mutations siblings (II:1, II:3, and II:4) are homozygous for the RAPSN gene.4 Another similar patient of in the RAPSN promoter region in eight cases withcongenital myasthenic syndrome. Hum Mol Genet Iranian Jewish origin has been reported with unaffected siblings (II:2 and II:5) do not carry 5 Mu¨ller JS, Abicht A, Christen HJ, et al. A newly identified chromosomal microdeletion of the creates a new BfaI site. DNA of the parents was rapsyn gene causes a congenital myasthenic CHRNE K171X mutation are similar to those syndrome. Neuromuscul Disord 2004;14:744–9.
1 Goadsby PJ, Lipton RB. A review of paroxysmal Trigeminal autonomic cephalalgias present hemicranias, SUNCT syndrome and other short-lasting headaches with autonomic feature, with excruciating headaches and accompany- including new cases. Brain 1997;120:193–209.
ing autonomic features such as ipsilateral 2 Davey R, Al-Din A. Secondary trigeminal lachrymation, rhinorrhoea, and eyelid ptosis.
autonomic cephalalgia associated with multiple For clinical purposes, these headaches are sclerosis. Cephalalgia 2004;24:605–7.
subclassified into cluster headaches, parox- 3 Galende AV, Camacho A, Gomez-Escalonilla C, et al. Lateral medullary infarction secondary to vertebral artery dissection presenting as a trigeminal autonomic cephalalgia. Headache2004; tearing),1 of which the paroxysmal hemicra- 4 van Vliet JA, Ferrari MD, Haan J, et al.
nia subtypes such as the acute and chronic Trigeminal autonomic cephalalgia-tic-like hemicranias are indomethacin responsive.
syndrome associated with a pontine tumour in a Neuroimaging is often normal in trigeminal one-year-old girl. J Neurol Neurosurg Psychiatry should be considered, as there are associa- 5 Giffin NJ, Goadsby PJ. Basilar artery aneurysm tions between trigeminal autonomic cepha- pathophysiological problem. J Neurol Neurosurg basilar aneurysms,5 and other posterior fossalesions. We present an unusual case of recurrent transient ischaemic attacks (TIA)with symptoms reminiscent of a trigeminal autonomic cephalalgia which ceased after a Body temperature is an important prognosticfactor in acute stroke, and it is a marker of life threatening infections such as pneumo-nia.1 In clinical practice rectal temperature is showed an acute infarct at the left ponto- regarded as a valid and reliable indicator of three day history of stereotyped neurological mesencephalic junction (fig 2). At follow up body temperature, but in the past 15 years 10 days later, her gait had improved. Her burning sensation in the left side of face, introduced into widespread clinical use.
congestion of the left eye, lachrymation from the left eye, watery discharge from the left easier, faster, and less invasive than rectal nostril, slurring of speech, and difficulty in walking. These episodes were not accompa- about the reliability and validity of this nied by headache. Each episode lasted for ipsilateral lachrymation, rhinorrhoea, conjuc- tival congestion, ptosis, or eyelid oedema are four times a day. On examination, there were no focal neurological deficits. In hospital, she cephalalgia. It is thought that activation of had four more episodes. As she had a left mature cataract (fig 1), the possibility of pain, and co-activation of the VIIth nerve been lying on one ear. Many stroke patients efferent parasympathetic pathway produces are hemiparalytic or hemiparetic and there- the autonomic manifestations such as ipsi- fore may lie on one ear. The aim of our study graphy of the brain was unremarkable. The possibilities considered were a vertebro-basi- mechanism analogous to this can be evoked lar TIA and a trigeminal autonomic cepha- to explain our patient’s symptoms. She had have had a stroke and have been lying on one lalgia. As she had additional neurological an ischaemic stroke in the ponto-mesence- symptoms, a TIA was considered more likely phalic junction. Ischaemia in this region than trigeminal autonomic cephalalgia, and could involve the trigeminal main sensory she was started on aspirin and intravenous and mesencephalic nuclei, resulting in facial heparin. Indomethacin was begun at 75 mg/ dysaesthesia comparable to ischaemic nerve the stroke unit of a university medical centre day but had to be discontinued after a single pain. In contrast to the ‘‘boring’’ intense pain or to the stroke rehabilitation unit of an dose because of gastric distress. Two days often encountered with trigeminal autonomic affiliated nursing home, both in an urban later, her episodic symptoms disappeared; cephalalgias, the burning dysaesthesias are area. Exclusion criteria were inability to lie on however, she now complained of persistent more consistent with ischaemia. Ischaemia one ear and absence of a rectal cavity. We right sided weakness and difficulty in walk- could also trigger trigemino-facial synapses used the NIH stroke scale (NIHSS) to assess ing. On examination, she had a new left sided in the superior salivatory nucleus and switch stroke severity.3 No follow up was conducted.
Horner’s syndrome, right upper motor neu- on the facial efferent parasympathetic path- way, resulting in ipsilateral lachrymation and both ears after the patient had been lying on weakness. Deep tendon reflexes were brisker one ear of choice for at least 15 minutes (first To the best of our knowledge, this is the resonance imaging of the brain at this time first report of a TIA presenting with trigem- ried out in patients on waking in the morning or after an afternoon nap. The ear the patient report highlights the expanding spectrum of had been lying on and the other ear will be further referred to as the lower ear and theupper ear, respectively. The second measure- emphasises the need to rule out a vertebro- ment was conducted by a different investi- basilar TIA in elderly patients with a new gator—who was not aware of the results of onset of trigeminal autonomic cephalalgia, especially if additional neurological symp- minutes after the patient had no longer been lying on one ear, and consisted of tympanic and rectal temperature measurements.
Department of Neurology, Lourdes Hospital, Kochi, difference between lower and upper eartemperature in consecutive tympanic mea- Figure 1 Congestion of the left eye during an surements and analysed this difference gra- acute attack. The patient gave written consent phically, as described by Bland and Altman.4 for this photograph to be reproduced.
Validity was assessed by comparing the mean investigations and treatment with antibiotics psychiatrists, and neuropsychologists. Brain in a considerable number of patients; more- Fiction by William Hirstein is the first book to decreased the statistical power of clinical attention. By doing so, Hirstein is faced with trials of temperature lowering treatment in the challenge of presenting and examining acute stroke patients, if tympanic tempera- ture was used without attention being paid to definition, the subtypes, the neural, and cognitive basis of confabulation and cruciallythe relation between its various forms and manifestations. Brain Fiction, however, has taken up further challenges. By borrowing The support of the nursing staff of the stroke units and integrating data and notions from both neuroscience and epistemology, Hirstein puts nursing home Antonius Binnenweg (Hannie van forward an original definition and model of A J J Rampen, E J van Breda, D W J Dippel creative and ‘‘checking’’ mental processes.
Department of Neurology, Erasmus Medical Centre, More generally, Hirstein chooses confabula- Figure 1 Difference in tympanic temperature tion as a promising template for the formula- taken from the upper and lower ear, plotted tion of an interdisciplinary dialogue and Correspondence to: Dr Eric J van Breda, Department interchange of ideas between neuroscience, taken from both ears (Bland–Altman plot). The of Neurology, Erasmus Medical Centre, PO box psychology, and philosophy. In addition, the solid horizontal line in the centre indicates the 1738, 3000 DR Rotterdam, Netherlands; http:// book proposes to hold a place for confabula- tion in a continuum of behaviours, ranging from ‘‘normal’’ other, and self-deception horizontal line indicates no difference (the null attempts in everyday life to deficits of theory of mind, awareness, and symptoms of socio-pathy.
It should be evident from the above, that Brain Fiction is addressed to professionals of 1 Reith J, Jorgensen HS, Pedersen PM, et al. Body temperature in acute stroke: relation to stroke female). Their mean age was 69.5 years, and accommodate the potential clefts in acquain- severity, infarct size, mortality, and outcome.
tance with expert knowledge and technical from 0 to 38. The mean of the first tympanic 2 Varney SM, Manthey DE, Culpepper VE, et al. A terms. However, the specialised reader should keep in mind that the book does not offer an temperature measurement in the elderly. J Emerg examination exhaustive in content or ency- taken from the upper ear were both 37.2˚C clopaedic in format. The book is of limited and the second measurement from the lower 3 Brott T, Adams HP, Olinger CP, et al.
interest to clinicians. It mainly aims at Measurements of acute cerebral infarction: a disentangling confabulation from the strict boundaries of its hitherto neuroscientific difference between the two ears was 0.39˚C examination and exposing it to direct philo- Bland JM, Altman DG. Statistical methods for (95% confidence interval, 0.22 to 0.56). This assessing agreement between two methods of sophical enquiry. This is an endeavour that difference ranged from 20.4˚C to 1.7˚C (fig 1).
clinical measurement. Lancet, 1986;i, 307–10.
promises mutual interdisciplinary benefits.
The mean difference between the first mea- 5 van Breda EJ, van der Worp HB, van Gemert HM, surement taken from the lower ear and the existing lack of theoretical and descriptive rectal temperature was 0.29˚C (0.13 to 0.45).
consensus on the subject, also chooses to ‘‘Paracetamol (acetaminophen) in stroke’’ (PAIS): propose a new aetiological account of the start van een klinische trial. Ned Tijdschr Inevitably, this analysis often entails smooth- Our study showed a clinically significant ing of the hard edges of some conflicting neuroscientific findings, and partial coverage measurements in the two ears after a stroke of some complex issues raised by confabula- tion, such as its implications for theories of difference disappeared after a while when consciousness, self-formation, and motiva- the patient was no longer lying on one ear.
tion. Such selectivity though has noteworthy There was no relation between actual body benefits. The book introduces an unprece- temperature and the size of the measurement dented emphasis in the study of confabula- tion by placing the definition, taxonomy, and Edited by William Hirstein. Published by Wiley, implications of the phenomenon into episte- patient has been lying on one ear, especially ground for fruitful neuro-philosophical dis- in children, neither this effect nor its magni- The striking neuropsychological symptom of logists, psychiatrists, and psychologists view In our opinion, a systematic error of 0.4˚C confabulation represents a prototypical form on average is not acceptable from a clinical point of view. It may lead to unnecessary stimulated great interest among neurologists,


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