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Banu Anlar

Publications and source records attributed to Banu Anlar.

29 records · Page 2Linked to original sources
PubMed2003

Bilateral temporal cysts in a case of subacute sclerosing panencephalitis.

Magnetic resonance imaging in subacute sclerosing panencephalitis (SSPE) usually demonstrates changes in white matter signal intensity, cerebral atrophy, or, in early disease, normal findings. We observed bilateral cystic temporal lobe lesions in a patient with early stage SSPE. Other degenerative conditions associated with such lesions were ruled out based on a normal head circumference, the absence of white matter changes, and normal cerebrospinal fluid lactate level. This observation suggests the inclusion of SSPE in the differential diagnosis of cystic white matter lesions.

Central Nervous System Cysts↗
PubMed2003

[Clinical characteristics of Lyme disease in 12 cases].

Lyme disease, an infection caused by Borrelia burgdorferi, has been reported in many countries from America and Europe, however, knowledge about its epidemiology in Turkey is incomplete. In this study, the clinical characteristics of 12 cases with Lyme disease who were diagnosed with the positivity of B. burgdorferi antibodies by western blot method in the laboratory of Ankara Bayindir Medical Center, have been reviewed. Physicians' recognition of early symptoms such as erythema migrans and later findings pertaining to the nervous system, joints, eye, and skin, and general awareness of the role of tick bites may increase the rate of diagnosis and allow earlier treatment of Lyme disease.

Adolescent↗
PubMed2002

Viral studies in the cerebrospinal fluid in subacute sclerosing panencephalitis.

OBJECTIVES: The pathogenesis of subacute sclerosing panencephalitis (SSPE), and particularly, the cause of measles virus (MV) reactivation following a latent period after primary measles infection is unknown. The hypothesis of other viruses contributing to the pathogenesis of SSPE by affecting the in vivo state of MV was investigated. METHODS: We examined the cerebrospinal fluid of SSPE patients (n=43) for DNA or RNA and antibodies against HSV type 1 and 2, EBV, CMV, VZV, Hepatitis B, Hepatitis C, JC virus, human herpesvirus (HHV)-6, HHV-7, HHV-8, HTLV-1, and HTLV-2. We compared the findings with those of patients with other neurological disorders (n=39). RESULTS: CMV DNA and HSV type 1 IgG were found more frequently in SSPE patients. Other positive results were at similar incidence in SSPE and control groups. The clinical features of SSPE cases with and without positive viral tests did not differ from each other. CONCLUSION: These data do not support a specific role for these agents in SSPE, but imply that the passage of some viruses to the CNS and local antibody synthesis may be facilitated by inflammation. The persistence or reactivation of MV in SSPE may be related to other factors pertaining to the host or environment.

Adolescent↗
PubMed2002

Gender prevalence in childhood multiple sclerosis and myasthenia gravis.

Multiple sclerosis and myasthenia gravis are the most common autoimmune diseases affecting the nervous system, with generally a female predominance in adults. To determine the gender distribution in childhood, we reviewed 28 patients with definite multiple sclerosis and 44 patients with myasthenia gravis with onset before 16 years. In myasthenia gravis, a significant female preponderance was observed only with onset after 10 years of age; earlier disease showed no gender difference. Multiple sclerosis tended to affect boys more than girls before age 10 years and both sexes equally after this age. Gender prevalence in childhood multiple sclerosis and myasthenia gravis is different than in adult series; these results may provide insight into pathogenesis or clinical approach.

Adolescent↗
PubMed2002

Expression of adhesion and extracellular matrix molecules in the developing human brain.

Cell adhesion molecules and extracellular matrix molecules have important roles in cell migration and connection. Their developmental expression has not been fully described in humans. In this report, these molecules were examined by immunohistochemistry in frontal tissue samples from 14- to 28-week-old fetuses aborted for obstetric reasons (n = 20) and four fetuses with nervous system abnormalities. Neural cell adhesion molecule (NCAM), tenascin, and laminin were expressed after 17 weeks. Neural cell adhesion molecule was observed in the neuropil, whereas tenascin and laminin also had cellular and vascular expression. Thrombospondin and fibronectin, apparent after 14 weeks, showed a redistribution from periventricular to outer cortical layers after midgestation. N-cadherin and integrin were observed in mid- and late gestation. Maternal or environmental conditions seemed to influence the pattern of expression. Fetuses with nervous system abnormalities had altered expression of several molecules. The descriptive data obtained in this study might constitute a basis for further studies investigating the role of these molecules in developmental abnormalities of the brain.

Brain↗
PubMedDate not supplied

Mutation analysis of TSC2 gene in 33 Turkish familial cases with tuberous sclerosis.

Tuberous sclerosis is an autosomal dominant multisystem disorder characterized by hamartomatous growths in different organs. Disease determining genes are localized to 9q34 (TSC1) and 16p13.3 (TSC2). Two-thirds of the cases are sporadic and result from new mutations. The aim of this study was to determine TSC2 gene mutations by Single Stranded Conformation Polymorphism (SSCP) analysis and direct sequencing in 33 familial cases with tuberous sclerosis who were followed up in the Pediatric Neurology Departments of Hacettepe University Ihsan Doğramaci and Ankara Social Security Children's Hospitals. Forty-one exons of TSC2 gene were amplified and subjected to SSCP, and sequence analysis was performed when an abnormal SSCP pattern was observed. As a result, six new mutations and nine gene polymorphisms were detected. The new mutations are G-->T mutation in exon 20, 16bp deletion in exon 29, 18bp deletion in exon 40, 538 G-->A mutation in exon 29, T-->C mutation in exon 21 and G-->A splice site mutation in exon 5. Although further studies on larger groups are needed, these results do not indicate a common region or type of mutation in the Turkish population.

Child↗
PubMedDate not supplied

Molecular analysis of neurofibromatosis type 1 in Turkish families using polymorphic markers.

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder characterized by multiple neurofibromas, café-au-lait spots, and Lisch nodules of iris. The NF1 gene is located on chromosome 17q11.2 and encodes an 11-13 kb mRNA containing 60 exons. The NF1 gene product neurofibromin is a large protein of 2818 amino acids which acts as a negative regulator in the ras signal transduction pathway. The disease has a high mutation rate and a wide range of expression. Because of the size and complexity of the gene, the variety of mutations and the need to identify the specific mutation in each family, indirect diagnosis using linked markers has an important part in genetic counseling. We analyzed 10 Turkish families with a total of 28 affected individuals and 34 non-affected relatives using polymorphic sequences, four intragenic and five flanking markers. Intragenic microsatellite markers were highly informative for all families. As a result, prenatal and presymptomatic diagnoses for familial cases are being made available.

Genes, Neurofibromatosis 1↗
PubMedDate not supplied

Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.

Neuronal ceroid lipofuscinosis (NCL) is one of the most common progressive neurodegenerative diseases seen in childhood. NCL is inherited as autosomal recessive trait, and is characterized by the accumulation of 'ceroid lipofuscin' in neuronal and extraneuronal cells. Clinical features include seizures, ataxia, myoclonus, loss of vision, and mental and motor deterioration. Although the disease is widely seen across the world, there seems to be an information gap in Asian countries. To date, no comprehensive and detailed studies on NCL have been carried out in Turkey. However, one could predict that the disease is rather frequent in Turkey due to high rates of consanguineous marriages. Thirty-six Turkish patients were evaluated in this study. Sixteen (44.5%) patients were girls, and 20 (55.5%) were boys. Parents were consanguineous in 25 families (80%). In five families (14%), the disease was seen in two sibs. The diagnosis was based on clinical evaluation, and neurophysiological, neuroradiologic, enzymatic, and histopathological studies. Electron microscopic study was the main diagnostic laboratory test. Three patients were classified as infantile NCL, 11 were late infantile NCL, 5 were juvenile type NCL and 17 patients were Turkish variant NCL. In juvenile type, major initial symptom was visual impairment, whereas in all other types seizures were predominantly the first symptom at the onset of the disease. The initial symptoms of Turkish variant NCL were similar to those of late infantile type. Similar age at clinical symptoms and the presence of visual symptoms were common features of Turkish variant and juvenile NCL. Compared to late infantile NCL, Turkish variant, showed a more severe course regarding seizures. Electroencephalogram (EEG) showed abnormal features predominantly in Turkish variant, and were remarkable for occipital spikes. In patients with Turkish variant magnetic resonance imaging of the brain showed brainstem involvement, especially pons, in all patients except one; cerebral and cerebellar atrophy were seen with a slower course compared to late infantile NCL. Clinical picture of NCL in advanced stages of the disease was similar regardless of the subtype.

Child↗
PubMedDate not supplied

L-2-hydroxyglutaric aciduria: a report of 29 patients.

L-2-hydroxyglutaric aciduria (L2HGA) is a chronic slowly progressive neurodegenerative disease characterized mainly by psychomotor developmental delay and cerebellar dysfunction. We report the clinical, biochemical, and neuroimaging features of 29 patients from 22 families. The mean age at the time of diagnosis was 13.4 years (2.5-32 years). The mean follow-up period of patients was four years (1.5-16 years). The main clinical findings were mental retardation and cerebellar involvement with ataxic gait and intentional tremor. Additional findings were mental retardation, macrocephaly and seizures. Diagnosis was confirmed by increased urinary excretion of L-2-hydroxyglutaric acid in all patients and highly specific magnetic resonance imaging (MRI) pattern showing subcortical leukoencephalopathy with bilateral high signal intensity in dentate nuclei and putamens. During the follow-up period, all patients had a static encephalopathy course. The underlying metabolic defect and the possible role of L-2-hydroxyglutaric acid are studied in a subgroup of these families and under evaluation for publication.

Adolescent↗
PubMedDate not supplied

Tracing immature myelin in acute disseminated encephalomyelitis.

Inherent abnormalities of myelin have been suggested in the pathogenesis of multiple sclerosis (MS). We investigated myelin in acute disseminated encephalomyelitis (ADEM) patients by magnetic resonance spectroscopy (MRS) and cerebrospinal fluid (CSF) analysis for citrulline, a marker of immature myelin. A citrulline peak was observed in the normal appearing white matter of 7/15 patients and of 1/10 age-matched neurological controls (p=0.08). CSF citrulline was elevated in 4/6 patients. Alterations in the composition of myelin might predispose to or follow acute inflammatory disorders of the central nervous system.

Adolescent↗