Anti-neuronal antibodies associated with headache with neurological deficits and cerebrospinal fluid lymphocytosis

5OCT333-335

A genome screen for linkage disequilibrium in Turkish multiple sclerosis

A genome screen for linkage disequilibrium in Turkish multiple sclerosisM. Eraksoya,*,1, A. Hensiekb,1, M. Kurtuncua,b, G. Akman-Demira, M. Kılıncc,M. Gedizlioglud, B. Petek-Balcıe, O¨ . Anlarf, C. Kutlug, G. Saruhan-Direskenelih,H.A. I˙drisoglua, E. Setakisi, A. Compstonb, S. SawcerbThe Turkish Multiple Sclerosis Genetics Study Group (TMSGSG)a Department of Neurology, Istanbul Faculty of Medicine, University of Istanbul, Capa, Istanbul TR-34390, Turkeyb Neurology Unit, Addenbrooke’s Hospital, University of Cambridge, Cambridge CB2 2QQ, UKc Department of Neurology, Faculty of Medicine, University of Baskent, Ankara, Turkeyd Department of Neurology, Buca Social Security Hospital, I˙zmir, Turkeye Department of Neurology, Haseki State Hospital, Istanbul, Turkeyf Department of Neurology, Faculty of Medicine, University of Yu¨zu¨ncu¨ yıl, Van, Turkeyg Department of Neurology, Faculty of Medicine, University of Osmangazi, Eskisehir, Turkeyh Neuroimmunology Laboratory, Department of Physiology, Istanbul Faculty of Medicine, University of Istanbul, Istanbul, TurkeyiMRC Biostatistics Unit, Institute of Public Health, University Forvie Site, Cambridge, UKAbstractIn order to screen the Turkish population for evidence of association with multiple sclerosis, we typed 6000 microsatellite markers inseparately pooled DNA samples from 197 cases and 199 controls following the Genetic Analysis of Multiple sclerosis in EuropeanS(GAMES) protocol. Twelve markers showing evidence for association were identified. One of these markers lying directly in a region whichis also implicated in the Turkish linkage screen (chromosome 5p15) and thus shows evidence for both linkage and association in independentdata sets.D 2003 Elsevier B.V. All rights reserved.Keywords: Multiple sclerosis; Turkey; Linkage disequilibrium; Genome screen1. IntroductionAvailable epidemiological evidence indicates that severalgenes determine susceptibility to multiple sclerosis witheach contributing only modest effect individually (Compston,2000). In this complex situation, tests for associationare significantly more powerful than those based on linkageand a genome-wide effort to find association by testing allpossible variants systematically would be the ideal experiment(Collins et al., 1997; Risch and Merikangas, 1996).Direct screenin

A whole genome screen for linkage in Turkish multiple sclerosis

A whole genome screen for linkage in Turkish multiple sclerosisM. Eraksoya,*,1, M. Kurtuncua,b,1, G. Akman-Demira, M. Kılıncc, M. Gedizlioglud, M. Mirzae,O¨. Anlarf, C. Kutlug, M. Demirkıranh, H.A. I˙drisoglua, A. Compstonb, S. SawcerbThe Turkish Multiple Sclerosis Genetics Study Group (TMSGSG)2a Department of Neurology, Istanbul Faculty of Medicine, University of Istanbul, C¸ apa, Istanbul TR-34390, Turkeyb Neurology Unit, Addenbrooke’s Hospital, University of Cambridge, Cambridge CB2 2QQ, UKc Department of Neurology, Faculty of Medicine, University of Baskent, Ankara, Turkeyd Department of Neurology, Buca Social Security Hospital, I˙zmir, Turkeye Department of Neurology, Gevher Nesibe Faculty of Medicine, University of Erciyes, Kayseri, Turkeyf Department of Neurology, Faculty of Medicine, University of Yu¨zu¨ncu¨ yıl, Van, Turkeyg Department of Neurology, Faculty of Medicine, University of Osmangazi, Eskisehir, TurkeyhDepartment of Neurology, Faculty of Medicine, University of C¸ukurova, Adana, TurkeyAbstractFactors exerting recessive effects on susceptibility to complex traits are expected to be over-represented in communities having a higherfrequency of consanguineous marriage. Multiple sclerosis, a typical complex trait, is relatively common in Turkey where cultural factors alsodetermine a high rate of consanguineous marriage. Previous genetic studies of multiple sclerosis in Turkey have been confined to the searchfor associations with candidate genes. In order to exploit the special genetic features of the Turkish population, we performed a wholegenome screen for linkage in 43 Turkish multiplex families employing 392 microsatellite markers. Two genomic regions where maximumlod score (MLS) values were suggestive of linkage were identified (chromosomes 13q and 18q23) along with a further 14 regions of potentiallinkage. Parametric analysis of these data using a recessive model, appropriate for populations with a high frequency of consanguinity,increased the LOD scores in four regions.D 2003 Elsevier B.V. All rights reserved.Keywords: Multiple sclerosis; Turkey; Genome screen; Linkage0165-5728/$ - see front matter D 2003 Elsevier B.V. All rights reserved.doi:10.1016/j.jneuroim.2003.08.006

Bilateral demyelinating tumefactive lesions in three children with hemiparesis

We present the results from the evaluations of three children ages of 2, 7, and 11 years with hemiparesis and multiple white-matter lesions on magnetic resonance images (MRIs). The initial symptoms were mainly acute/subacute hemiparesis in all and headache/vomiting in one of them. Before admission, one of them had a history of upper respiratory tract infection, whereas another had undergone urinary tract surgery, and the other reported no history of any infection or stress-related factor. In all of the children, MRI showed multiple superficial and deep white-matter hyperintensity in T-2-weighted and proton density images with perifocal edema in the acute phase. During the symptomatic period, all of the patients underwent corticosteroid treatment. Whereas two of the patients demonstrated signs of recovery during the first week of treatment, the other patient demonstrated almost a full recovery with minimal neurologic sequela. Follow-up MRI demonstrated not only a remarkable decrease in the size and number of the lesions, with complete resolution for many of them, it also demonstrated a loss of contrast enhancement. None of these three patients, who had been followed up clinically and through MRI for 5 years, have shown either a clinical relapse or new lesions. The clinical pictures and MRI of the children were different in some aspects from acute multiple sclerosis and acute disseminated encephalomyelitis. Regarding both the clinical follow-up and treatment strategy, it is essential and interesting to state the fact that tumefactive lesions involving both hemispheres are likely to appear during the monitoring of the monophasic courses among inflammatory demyelinating diseases of childhood such as acute disseminated encephalomyelitis

Non-pProgressive congenital ataxia with cerebellar hypoplasia in three families.

AbstractAim: Non-progressive ataxias with cerebellar hypoplasia are a rarely seen heterogeneous group of hereditary cerebellar ataxias.Method: Three sib pairs from three different families with this entity have been reviewed, and differential diagnosis has beendiscussed. Results: In two of the families, the parents were consanguineous. Walking was delayed in all the children. Truncaland extremity ataxia were then noticed. Ataxia was severe in one child, moderate in two children, and mild in the remainingthree. Neurological examination revealed horizontal, horizonto-rotatory and/or vertical nystagmus, variable degrees of mentalretardation, and pyramidal signs besides truncal and extremity ataxia. In all the cases, cerebellar hemisphere and vermishypoplasia were detected in MRI. During the follow-up period, a gradual clinical improvement was achieved in all thechildren.Conclusion: Inheritance should be considered as autosomal recessive in some of the non-progressive ataxic syndromes.Congenital non-progressive ataxias are still being investigated due to the rarity of large pedigrees for genetic studies. If furtherinformation on the aetiopathogenesis and clinical progression of childhood ataxias associated with cerebellar hypoplasia isto be acquired, a combined evaluation of metabolic screening, long-term follow-up and radiological analyses is essential.Key Words: Cerebellar hypoplasia, congenital non-progressive ataxic syndrome

Proton spectroscopic findings in children with epilepsy owing to tuberous sclerosis complex.

ABSTRACTTuberous sclerosis complex is an autosomal dominant disorder that often causes refractory seizures. The presence of multiplelesions makes it difficult to identify a single lesion responsible for the epilepsy. Our purpose is to assess the single-voxelproton spectroscopic findings of the tubers in 11 children with tuberous sclerosis complex. Prior to age 4 years, all of thepatients had presented with epileptic seizures and multiple bilateral tubers in magnetic resonance images. Single-voxelproton spectroscopy was performed from the tubers especially showing epileptogenic activity using both the long andshort echo time and in 14 controls. The results were analyzed using the Mann-Whitney U-test. Compared with the controlgroup, the spectroscopic findings of tubers were characterized by decreased N-acetylaspartate to creatine ratios (1.43 ±0.33; P < .001) in both the long and short echo time spectra, increased choline to creatine ratios (0.91 ± 0.082; P < .05), andmyo-inositol to creatine ratios (0.97 ± 0.19; P < .01) in the short echo time spectra. A lactate peak was detected in theregions corresponding to an epileptic focus on electroencephalography in six patients. Single-voxel proton spectroscopycould be a useful noninvasive method to evaluate epileptogenic tubers. (J Child Neurol 2005;20:517–522)