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1.
Neurodegener Dis ; 19(5-6): 218-224, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-32349000

RESUMO

OBJECTIVES: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive inborn lipid storage disorder due to various pathogenic mutations in the CYP27A1 gene. Although the symptoms begin commonly in infancy, CTX diagnosis is often delayed. In this study, we report 7 Turkish CTX patients who had a delayed diagnosis despite early clinical signs and belonged to 6 unrelated families. METHODS: We have retrospectively evaluated clinical, laboratory, imaging, and genetic findings of CTX patients, which were collected from 2 centers specialized in movement disorders: the Department of Neurology, Faculty of Medicine, Istanbul University, and the Department of Neurology, Faculty of Medicine, Mersin University. RESULTS: All patients were diagnosed with CTX after neurological symptom development, and their mean age at diagnosis was 38.7 ± 9.6 years, despite a mean onset age of 12.4 ± 10.6 years. The mean follow-up period was 28 months (range: 3-60 months). The most common initial clinical abnormalities in our cohort were unexplained chronic diarrhea (42%), febrile convulsion (42%), juvenile cataract (85%), childhood depression and autism (14%), parkinsonism (14%), and intellectual disability (100%). The most prominent neurological findings were the pyramidal-cerebellar syndrome (85%) and extrapyramidal signs (42%). All patients were genetically confirmed. Serum cholestanol levels were elevated in all patients and decreased after chenodeoxycholic acid (CDCA) treatment in 6 patients. CONCLUSION: This cohort is the largest CTX case series in Turkey. All cases showed improvement in gastrointestinal symptoms as a response to CDCA treatment and stabilization on neurological symptoms, i.e., no further progression of neurological abnormalities were noted during this treatment. Therefore, early diagnosis and treatment is crucial in preventing clinical deterioration.


Assuntos
Xantomatose Cerebrotendinosa/diagnóstico , Adulto , Encéfalo/diagnóstico por imagem , Ácido Quenodesoxicólico/uso terapêutico , Colestanotriol 26-Mono-Oxigenase/genética , Diagnóstico Tardio , Progressão da Doença , Feminino , Seguimentos , Fármacos Gastrointestinais/uso terapêutico , Humanos , Masculino , Estudos Retrospectivos , Xantomatose Cerebrotendinosa/tratamento farmacológico , Xantomatose Cerebrotendinosa/genética , Xantomatose Cerebrotendinosa/fisiopatologia
2.
Emerg Radiol ; 22(3): 347-9, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25763569

RESUMO

Diabetic striatopathy is a rare and life-threatening manifestation of diabetes mellitus. The disease commonly affects individuals of Asian descent, females, and the elderly. Patients usually present with hemiballism-hemichorea caused by nonketotic hyperglycemia. Hemiballism-hemichorea is defined as involuntary continuous random appearing movement involving one side of the body. This movement disorder may develop secondary to stroke, diabetic striatopathy, neoplasm, infection, Wilson's disease, and thyrotoxicosis. Despite being rare, prompt recognition of a hyperglycemia-induced hemiballism-hemichorea is essential because the symptoms are reversible with correction of hyperglycemia. Diagnosis is possible based on blood analysis and neuroimaging findings. Laboratory tests reveal raised blood glucose and hemoglobin A1C levels which indicate poorly controlled diabetes. Neuroimaging provides suggestive findings of diabetic striatopathy which are hyperattenuation on computed tomography and hyperintensity on T1-weighted magnetic resonance imaging in the basal ganglia. In this case report, our aim is to present neuroimaging findings in an adult man with sudden onset of hemiballism associated with nonketotic hyperglycemia.


Assuntos
Complicações do Diabetes/diagnóstico , Discinesias/diagnóstico , Biomarcadores/sangue , Diagnóstico Diferencial , Diagnóstico por Imagem , Humanos , Masculino , Pessoa de Meia-Idade
3.
Headache ; 51(3): 426-431, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21352216

RESUMO

OBJECTIVE: We attempted to investigate the relationship between migraine without aura (MwoA) and bronchial hyper-reactivity to postulate inflammation as an underlying mechanism in migraine. BACKGROUND: Comorbidity of migraine and atopic diseases such as asthma has been an argument for suspected immune system dysfunction in migraineurs. METHODS: Twenty patients with MwoA and 5 control subjects without history of atophy and asthma were included in study. Subjects with abnormal physical examination and chest radiographs were excluded. After a normal spirometry, methacholine bronchoprovocation test was performed in all subjects and controls according to 5 breath dosimeter methods. RESULTS: Sixteen of 20 patients and 2 of 5 control subjects were women. Mean ages were 37.5 (19-56) and 33.8 (26-43) years, respectively. Methacholine bronchoprovocation test was positive in 3 patients (15%) but was normal in all controls (0%). CONCLUSIONS: The relationship between MwoA and bronchial hyper-reactivity may help to postulate the inflammation in migraine as an underlying mechanism.


Assuntos
Hiper-Reatividade Brônquica/fisiopatologia , Inflamação/fisiopatologia , Enxaqueca sem Aura/fisiopatologia , Adulto , Hiper-Reatividade Brônquica/epidemiologia , Testes de Provocação Brônquica , Estudos de Casos e Controles , Comorbidade , Feminino , Humanos , Inflamação/epidemiologia , Masculino , Pessoa de Meia-Idade , Enxaqueca sem Aura/epidemiologia , Projetos Piloto , Testes de Função Respiratória
4.
Cephalalgia ; 30(6): 703-12, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-20511210

RESUMO

Headache is a common problem among adolescents, and variations can be observed in headache types and characteristics. The present study aimed to reach 5562 Turkish children who were investigated six years previously in a school-based childhood headache project, and to evaluate their current headache status. Investigators interviewed the available students with structured questionnaires. New and old data were matched and analyzed. The present study included 1155 adolescents (mean age 15.2 +/- 1.1 years), with 582 boys (50.4%) and 573 girls (49.6%). The prevalence of headache was 78.7% (tension-type headache [TTH] 57.5%, migraine 18.6%, unspecified 2.6%). The prevalence of headache was 45.2% six years previously. In the intervening six years, headache prevalence increased and the headache types changed significantly (Kappa: 0.04, p < .01). The most important variation during this time was the significant increase in TTH. Analgesic use was determined in 70.2% of adolescents with headache, with this ratio being higher in migraineurs. In conclusion, there were an increase in headache prevalence and a significant change in headache types over the previous six years. It can also be suggested that new country-based management strategies are required.


Assuntos
Cefaleia/epidemiologia , Atividades Cotidianas , Adolescente , Criança , Avaliação da Deficiência , Feminino , Cefaleia/etiologia , Humanos , Masculino , Prevalência , Prognóstico , Fatores de Risco , Turquia/epidemiologia
5.
Cutan Ocul Toxicol ; 29(2): 140-2, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-20298142

RESUMO

BACKGROUND: Hand-foot syndrome (HFS), the most common toxicity of capecitabine, is characterized by tingling, numbness, pain, erythema, dryness, rash, swelling, increased pigmentation, and/or pruritus of the palmar and/or plantar surfaces of the hands and/or feet. HFS is usually seen in both the hands and the feet, with varying severity. We have previously published a case report of dihydropyrimidine dehydrogenase (DPD) deficiency that manifested a variant of HFS. CASE REPORT: We report the case of a 65-year-old Turkish Cypriot male patient with advanced gastric cancer who developed pain, numbness, and reddening in his left palm and left sole 10 days after the fourth cycle of capecitabine at a dose of 1,000 mg/m(2)/day twice daily (BID) on days 1 to 14 every 21 days. On physical examination, he had unilaterally erythematous changes and skin scaling on his left sole and palm consistent with grade II HFS. After stopping administration of capecitabine and supportive management, the HFS resolved in a week's time. CONCLUSIONS: To the best of our knowledge, this is the first case of capecitabine-induced unilateral HFS. Further investigation related to this toxicity associated with capecitabine is warranted.


Assuntos
Antimetabólitos Antineoplásicos/efeitos adversos , Desoxicitidina/análogos & derivados , Eritema/induzido quimicamente , Fluoruracila/análogos & derivados , Pé/patologia , Mãos/patologia , Idoso , Antimetabólitos Antineoplásicos/uso terapêutico , Atrofia , Capecitabina , Desoxicitidina/efeitos adversos , Desoxicitidina/uso terapêutico , Deficiência da Di-Hidropirimidina Desidrogenase , Eritema/patologia , Fluoruracila/efeitos adversos , Fluoruracila/uso terapêutico , Lateralidade Funcional , Humanos , Masculino , Neoplasias Gástricas/complicações , Neoplasias Gástricas/tratamento farmacológico
6.
Clin Neurol Neurosurg ; 199: 106257, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-33039854

RESUMO

In the present study, we focused on investigating the contribution of functional dopamine D2 and D3 receptor variants to motor and/or non-motor symptoms of early onset Parkinson's disease (EOPD). Three functional single nucleotide polymorphisms (SNPs), DRD3 rs6280, DRD2 rs2283265 and DRD2 rs1076560, were genotyped in 128 Turkish EOPD patients and then, statistical analysis was conducted for the potential impacts of SNPs on clinical parameters. All three SNPs were found to be statistically significant in terms of PD-related pain: DRD3 [rs6280; risk allele "T" for pain; p = 0.031; odds ratio (OR)=4.25], DRD2 [rs2283265; risk allele "A" for pain; p = 0.001; OR=8.47] and, DRD2 [rs1076560; risk allele "A" for pain; p = 0.022; OR=4.58]. Additionally, bilateral disease [p = 0.011; OR=5.10] and gender [risk group "female"; p = 0.003; OR=8.53] were also identified as significant univariate risk factors for PD-related pain. Based on logistic regression analysis conducted with the significant univariate risk factors, this the first report to clarify that a female patient with bilateral PD and DRD2 rs2283265 polymorphism has a significant risk for PD-related pain. Our findings might contribute to improve life quality by offering treatment options for pain in PD patients with these clinical and genetic features.


Assuntos
Variação Genética/genética , Transtornos das Habilidades Motoras/genética , Doença de Parkinson/genética , Polimorfismo de Nucleotídeo Único/genética , Receptores de Dopamina D2/genética , Receptores de Dopamina D3/genética , Adulto , Idade de Início , Estudos de Coortes , Feminino , Seguimentos , Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/genética , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos das Habilidades Motoras/diagnóstico , Transtornos das Habilidades Motoras/epidemiologia , Doença de Parkinson/diagnóstico , Doença de Parkinson/epidemiologia
7.
Acta Neurol Belg ; 109(3): 210-3, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19902815

RESUMO

Sciatic nerve injury is an iatrogenic and rare complication of intragluteal injections. There are a few reports on the subject in adults. Data were collected for eight years from patients referred to our electroneuromyography laboratory. Twenty-eight adult patients (20 males and 8 females) diagnosed with post-injection injuries were identified by history, clinical and electrophysiological findings. A complete history was available in 26, all reporting sudden pain and subsequent radiation of pain and numbness in the distribution of the sciatic nerve. In 17 of the 28 the common peroneal portion was affected more severely than the posterior tibial portion; in seven the opposite. Twenty-three patients were able to name the injected drug, and dipyrone (metamizole) specifically, as the responsible agent in 11 of them (47,8%). Injection neuropathy is not specific to children only alone and according to our data special attention is needed during intragluteal injections for thin men and/or usage of dipyrone.


Assuntos
Anti-Inflamatórios não Esteroides/efeitos adversos , Dipirona/efeitos adversos , Nervo Isquiático/lesões , Neuropatia Ciática/etiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Anti-Inflamatórios não Esteroides/administração & dosagem , Peso Corporal , Dipirona/administração & dosagem , Feminino , Humanos , Injeções Intramusculares/efeitos adversos , Masculino , Pessoa de Meia-Idade , Condução Nervosa , Nervo Isquiático/fisiopatologia , Neuropatia Ciática/fisiopatologia , Adulto Jovem
8.
Agri ; 21(2): 80-2, 2009 Apr.
Artigo em Turco | MEDLINE | ID: mdl-19562537

RESUMO

Although the vast majority of chronic headache is idiopathic in origin, child abuse can be a very rare cause of paroxysmal headaches in children. The aim of this report was to present a case of migraine headache aggravated after sexual abuse, which did not respond to treatment. An 11-year-old girl admitted to the outpatient department of the Neurology Clinic with headache complaint for the past two years. Neurological examination, neuroimaging and laboratory tests were normal. According to the International Classification of Headache Disorders (ICHD)-II criteria, the headache was diagnosed as migraine without aura and treatment as prophylaxis was planned. Her headache did not respond to treatment, so she was consulted with the Department of Child and Adolescent Psychiatry and diagnosed as major depressive disorder. During one of the psychological interviews, she confessed that she had been sexually abused by her mother's boyfriend for two years. After this confession and punishment of the abuser, her headache improved dramatically. The prevalence of physical, sexual, and emotional abuse during childhood has been estimated between 13% and 27%, and these children may suffer chronic pain, headache or depression. Sexual abuse has been strongly associated with the migraine-depression phenotype when abuse first occurred before the age of 12 years. Despite the high prevalence of abuse, many physicians do not routinely ask about abuse history. In conclusion, child abuse must be kept in mind in intractable childhood headache. A multidisciplinary approach with the Departments of Forensic Sciences and Child and Adolescent Psychiatry and detailed psychiatric evaluation should be useful in these cases.


Assuntos
Abuso Sexual na Infância/psicologia , Transtorno Depressivo/psicologia , Transtornos de Enxaqueca/psicologia , Criança , Transtorno Depressivo/diagnóstico , Transtorno Depressivo/epidemiologia , Transtorno Depressivo/etiologia , Diagnóstico Diferencial , Feminino , Humanos , Transtornos de Enxaqueca/diagnóstico , Transtornos de Enxaqueca/epidemiologia , Transtornos de Enxaqueca/etiologia
9.
Environ Health Perspect ; 115(11): 1564-8, 2007 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-18007985

RESUMO

BACKGROUND: Essential tremor (ET) is one of the most common neurologic disorders. Aside from underlying susceptibility genes, recent studies have also begun to focus on environmental toxic factors. Yet there remains a paucity of information on such factors, making studies of environmental factors important. A recent study in New York City found blood lead concentrations to be elevated in ET cases compared with matched controls. Chronic exposure to lead produces cerebellar damage, and this could predispose individuals to develop ET. OBJECTIVE: The aim of this study was to determine whether the elevation in blood lead concentrations observed in a single study in New York was similarly present in ET cases sampled from a completely different geographic region. METHODS: Blood lead concentrations were measured in 105 ET cases and 105 controls at Mersin University, Mersin, Turkey. RESULTS: The median blood lead concentration was 2.7 microg/dL in ET cases compared with 1.5 microg/dL in controls (p < 0.001). In an unadjusted logistic regression model, blood lead concentration was associated with diagnosis: odds ratio (OR) = 4.01; 95% confidence interval (CI), 2.53-6.37; p < 0.001 (i.e., each 1-microg/dL increase in blood lead concentration was associated with a 4-fold increased odds of ET). This association was more robust when cases were compared with a subsample of controls who did not share the same home environment (OR = 8.13; 95% CI, 3.05-21.65; p < 0.001). In adjusted models, results were similar. CONCLUSIONS: These data replicate those of a previous study in New York and demonstrate an association between the environmental toxicant lead and a common neurologic disorder.


Assuntos
Tremor Essencial/fisiopatologia , Intoxicação por Chumbo/complicações , Chumbo/sangue , Adulto , Estudos de Casos e Controles , Tremor Essencial/diagnóstico , Tremor Essencial/etiologia , Feminino , Humanos , Modelos Logísticos , Masculino , Turquia , Gravação de Videoteipe
10.
Agri ; 19(2): 20-32, 2007 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-17760241

RESUMO

The objectives of this study were to determine the age and sex dependent linear trend of recurrent headache prevalence in schoolchildren in Mersin. A stratified sample composed of 5562 children; detailed characteristics were previously published. In this study the prevalence distribution of headache by age and sex showed a peak in the female population at the age of 11 (27.2%) with a plateau in the following years. The great stratified random sample results suggested that, in addition to socio-demographic features, detailed linear trend analysis showed headache features of children with headache have some specific characteristics dependent on age, gender and headache type. This study results can constitute a basis for the future epidemiological based studies.


Assuntos
Cefaleia/epidemiologia , Criança , Proteção da Criança , Feminino , Cefaleia/etiologia , Cefaleia/patologia , Humanos , Masculino , Prevalência , Turquia/epidemiologia
11.
Mult Scler Relat Disord ; 16: 40-43, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28755683

RESUMO

BACKGROUND: Fatigue is the most frequent and often debilitating symptom for patients with multiple sclerosis (MS). There are no available effective therapies for fatigue associated with MS, and it is unclear whether a successful therapy of MS leads to clinical improvement. Sulbutiamine is a lipophilic compound that crosses the blood-brain barrier more readily than thiamine and increases the levels of thiamine and thiamine phosphate esters in the brain. Whereas several clinical trials have demonstrated the beneficial effects of sulbutiamine in patients with asthenia, there have been no reports on the effects of sulbutiamine on fatigue in patients with MS. OBJECTIVES: Our study was designed to evaluate the short-term effects of sulbutiamine on fatigue in patients with MS. METHODS: Patients were included if fatigue was one of their three predominant symptoms. They were required to have a total score on the Fatigue Impact Scale (FIS) of >20, and on the Beck Depression Inventory of <17, and no relapse in the last 3 months prior to onset of the study. Patients were advised to receive 400mg orally of sulbutiamine once daily for two months. The outcome of the study was in the changes of FIS. RESULTS: Twenty-six patients with MS (18 females and 8 males) were selected. The patients were 18-57 years of age (mean:37,2). The average score of Expanded Disability Status Scale (EDSS) of the patients was 2,71. A significant number of the subjects who were on some kind of disease modifying treatment (DMT) demonstrated obvious improvement in their total FIS scores, whereas none of the subjects who were not on any DMT improved (13/23 vs. 0/5). The average fatigue score was 77 (SD:30,5) at the baseline and 60,5 (SD:29,7) on Day 60, respectively. Sulbutiamine intake resulted in a significant reduction on the total score of FIS and on all three subscales assessing physical, cognitive, and psychosocial functioning (all p-values < 0,01). There were no serious adverse events. CONCLUSIONS: Sulbutiamin appears to be effective in treating fatigue in MS; particularly in patients who were on some DMT, but not on those who were not. It is well-tolerated by all. This observation may encourage further evaluations of the efficacy of sulbutiamine on fatigue in MS.


Assuntos
Fármacos do Sistema Nervoso Central/uso terapêutico , Fadiga/tratamento farmacológico , Esclerose Múltipla/complicações , Tiamina/análogos & derivados , Adolescente , Adulto , Avaliação da Deficiência , Fadiga/etiologia , Fadiga/fisiopatologia , Feminino , Humanos , Fatores Imunológicos/uso terapêutico , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/tratamento farmacológico , Esclerose Múltipla/fisiopatologia , Escalas de Graduação Psiquiátrica , Tiamina/uso terapêutico , Resultado do Tratamento , Adulto Jovem
12.
J Med Imaging Radiat Oncol ; 61(3): 353-360, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28229525

RESUMO

Bithalamic lesions are uncommon, however, both focal and systemic disorders may present bilateral abnormalities in the thalamus in different acute and chronic clinical situations. Neuroimaging, in particular magnetic resonance imaging, plays an essential role in diagnostic approach. Imaging features such as signal alterations, diffusion restriction or contrast enhancement are helpful in characterization of these abnormalities. The location of the lesions may provide key information because some pathologies typically involve a certain part of the thalamus. In addition to thalamic findings, neuroimaging findings in other parts of the brain associated with the clinical and laboratory information should be taken into account to make a correct diagnosis.


Assuntos
Neuroimagem/métodos , Doenças Talâmicas/diagnóstico por imagem , Diagnóstico Diferencial , Humanos
13.
Indian J Hematol Blood Transfus ; 33(1): 97-105, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28194064

RESUMO

Therapeutic plasma exchange (TPE) is a procedure that reduces circulating autoantibodies of the patients. TPE is commonly used in neurological disorders where autoimmunity plays a major role. We report our experience with regard to the indications, adverse events and outcomes of plasma exchange in neurological disorders. Sixty-three patients were included to this retrospective study. Median age was 48 years (range 1-85), there was a predominance of males. Neurological indications included Guillain-Barrè syndrome (n = 22), myasthenia gravis (n = 21), chronic inflammatory demyelinating polyneuropathy (n = 7), polymyositis (n = 3), multifocal motor neuropathy (n = 2), acute disseminated encephalomyelitis (n = 2), neuromyelitis optica (n = 2), multiple sclerosis (n = 2), limbic encephalitis (n = 1) and transverse myelitis (n = 1). TPE was frontline therapy in 57 % of the patients (n = 36). Total number of TPE sessions was 517; median number of sessions per patient was 8 (range 1-66). TPE was done through a central venous access in 97 % and through a peripheral venous access in 3 % of the patients. Human albumin was used as replacement fluid in 49 %, hydroxyethyl starch (HES) in 49 % and fresh frozen plasma in 2 % of the cases. Adverse reactions were recorded in 60 % of the patients. Total ratio of complications in 517 TPE procedures was 10.8 % and these were mild and manageable such as allergic reactions and hypotension. Overall response rate was 81 %. Interestingly, complication and response rates were similar in both HES and human albumin groups. We conclude that TPE is an effective treatment in neurologic diseases in which autoimmunity plays an important role in the pathogenesis and HES can be used instead of albumin as replacement fluid in these disorders, since it is cost-effective, has similar efficacy and complication rates.

14.
Neurol Res ; 39(11): 965-972, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28830306

RESUMO

Background and aim The effect of epigenetic modifications in the genes related to Parkinson's disease (PD) is still unclear. In the present study, we investigated methylation status of SNCA and PARK2 genes in patients with early-onset Parkinson's disease (EOPD). Materials and methods The promoter region methylation status of SNCA and PARK2 genes was evaluated by methylation specific-PCR (MSP) in 91 patients with EOPD and 52 healthy individuals. Results The methylation of SNCA and PARK2 promoter regions were significantly lower in EOPD patients compared to the control group (P = 0.013 and P = 0.03, respectively). We also found that the methylation status of the SNCA might be associated with positive family history of PD (P = 0.042). Conclusion Although it should be supported by further analysis, based on the results of the present study, the methylation status of SNCA and PARK2 genes might contribute to EOPD pathogenesis.


Assuntos
Metilação de DNA , Doença de Parkinson/genética , Regiões Promotoras Genéticas , Ubiquitina-Proteína Ligases/genética , alfa-Sinucleína/genética , Idade de Início , Ilhas de CpG , Epigênese Genética , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/metabolismo , Linhagem
15.
Parkinsonism Relat Disord ; 39: 64-70, 2017 06.
Artigo em Inglês | MEDLINE | ID: mdl-28347615

RESUMO

INTRODUCTION: Mutations in the C19orf12 gene cause mitochondrial membrane protein associated neurodegeneration (MPAN), an autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA). A limited number of patients with C19orf12 mutations, particularly those with adult onset of symptoms, have been reported. METHODS: We sequenced the entire coding region of C19orf12 in 15 Turkish adult probands with idiopathic NBIA. We also performed haplotype analysis in families with a recurrent C19orf12 mutation. Clinical features were collected using a standardized form. RESULTS: Nine of our 15 probands (60%) carried the homozygous c.32C > T mutation in C19orf12 (predicted protein effect: p.Thr11Met). This homozygous mutation co-segregated with the disease in all affected relatives available for testing (16 homozygous subjects). Haplotypes across the C19orf12 locus were identical for a very small region, closest to the mutation, suggesting an old founder, or, two independent founders. The clinical phenotype was characterized by adult onset in most cases (mean 24.5 years, range 10-36), and broad spectrum, including prominent parkinsonism, pyramidal signs, psychiatric disturbances, cognitive decline, and motor axonal neuropathy, in various combinations. On T2- or susceptibility weighted-MRI images, all patients displayed bilateral hypointensities in globus pallidus and substantia nigra, without an eye-of-the-tiger sign; however, hyperintense streaking of the medial medullary lamina between the external and internal parts of globus pallidus was observed frequently. CONCLUSION: The C19orf12 p.Thr11Met mutation is frequent among adult Turkish patients with MPAN. These findings contribute to the characterization of this important NBIA form, and have direct implications for genetic testing of patients of Turkish origin.


Assuntos
Predisposição Genética para Doença/genética , Proteínas Mitocondriais/genética , Mutação/genética , Doenças Neurodegenerativas/genética , Adolescente , Adulto , Criança , Análise Mutacional de DNA , Saúde da Família , Feminino , Haplótipos , Humanos , Processamento de Imagem Assistida por Computador , Imageamento por Ressonância Magnética , Masculino , Metionina/genética , Doenças Neurodegenerativas/complicações , Doenças Neurodegenerativas/diagnóstico por imagem , Treonina/genética , Turquia , Adulto Jovem
16.
J Headache Pain ; 7(5): 347-50, 2006 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17058044

RESUMO

The aim of the report is to present a case of an autonomic headache associated with autonomic seizures. A 19-year-old male who had had complex partial seizures for 15 years was admitted with autonomic complaints and left hemicranial headache, independent from seizures, that he had had for 2 years and were provoked by watching television. Brain magnetic resonance imaging showed right hippocampal sclerosis and electroencephalography revealed epileptic activity in right hemispheric areas. Treatment with valproic acid decreased the complaints. The headache did not fulfil the criteria for the diagnosis of trigeminal autonomic cephalalgias, and was different from epileptic headache, which was defined as a pressing type pain felt over the forehead for several minutes to a few hours. Although epileptic headache responds to anti-epileptics and the complaints of the present case decreased with antiepileptics, it has been suggested that the headache could be a non-trigeminal autonomic headache instead of an epileptic headache.


Assuntos
Sistema Nervoso Autônomo/fisiopatologia , Cefaleia/diagnóstico , Cefaleia/fisiopatologia , Convulsões/diagnóstico , Convulsões/fisiopatologia , Anticonvulsivantes/uso terapêutico , Diagnóstico Diferencial , Eletroencefalografia , Epilepsia/diagnóstico , Epilepsia/fisiopatologia , Cefaleia/tratamento farmacológico , Cefaleia/patologia , Hipocampo/patologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Convulsões/tratamento farmacológico , Convulsões/patologia , Cefalalgias Autonômicas do Trigêmeo/diagnóstico , Ácido Valproico/uso terapêutico , Adulto Jovem
17.
Clin Neurol Neurosurg ; 148: 147-53, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27455133

RESUMO

OBJECTIVE: Variations in PARK genes (PRKN, PINK1, DJ-1, and SNCA) cause early-onset Parkinson's disease (EOPD) in different populations. In the current study, we aimed to evaluate the frequencies of variations in PARK genes and the effects of these variations on the phenotypes of Turkish EOPD patients. METHODS: All coding regions and exon-intron boundaries of the PRKN, PINK1, DJ-1, and SNCA genes were screened by heteroduplex analysis followed by direct sequencing of the detected variants in 50 Turkish EOPD patients. These variants were evaluated using SIFT, PolyPhen, HSF, and LOVD web-based programs. RESULTS: The frequency of EOPD-associated variations in the PRKN gene was 34%. Among these variations, p.A82E in exon 3 and p.Q409X in exon 11 was determined to be pathogenic. We also defined previously unknown cryptic variations, including c.872-35 G>A and c.872-28T>G in exon 8 of PRKN and c.252+30 T>G and c.322+4 A>G in exons 4 and 5 of DJ1, respectively, that were associated with EOPD. Although no significant association was observed between the PARK gene mutations and clinical features (P>0.05), the alterations were related to the clinical symptoms in each patient. CONCLUSION: An increasing number of studies report that PRKN, PINK1, DJ1 and SNCA mutations are associated with early-onset Parkinson's disease; however, a limited number of studies have been conducted in Turkey. Additionally, our study is the first to evaluate the frequency of SNCA mutations in a Turkish population. The aim of this study was determine the frequency distributions of the PRKN, PINK1, DJ1, and SNCA gene mutations and to analyze the relationships between these genetic variations and the clinical phenotype of EOPD in Turkish patients.


Assuntos
Doença de Parkinson/genética , Doença de Parkinson/fisiopatologia , Proteína Desglicase DJ-1/genética , Proteínas Quinases/genética , Ubiquitina-Proteína Ligases/genética , alfa-Sinucleína/genética , Adulto , Idade de Início , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Turquia
18.
J Neurol ; 252(5): 570-4, 2005 May.
Artigo em Inglês | MEDLINE | ID: mdl-15778813

RESUMO

OBJECTIVE: To describe the clinical features of essential tremor (ET) in a population. BACKGROUND: With few exceptions, clinical data on ET are derived from patients who attend specialty clinics. Most (> 90%) population-dwelling ET cases do not seek neurological attention. METHODS: 89 ET cases living in the Mersin province, Turkey were matched to 89 controls from the same population. All were examined by neurologists. Standardized scales included the Hamilton Depression Scale (HDS) and Hamilton Anxiety Scale (HAS). RESULTS: Eight-one (91%) of 89 cases previously had not been diagnosed as ET and 96.6% were untreated. Despite this,more than half (51.7%) of the cases answered "yes" to the question "are you disabled in some way by your tremor". Cases had more psychiatric symptomatology than controls (mean HDS scores = 11.4 +/- 8.2 vs. 7.9 +/- 6.1, p = 0.003 and mean HAS scores = 12.0 +/- 8.8 vs. 6.9 +/- 7.1, p < 0.001). Among ET cases, HDS scores (r = 0.24, p = 0.03) and HAS scores (r = 0.27, p = 0.01) were correlated with tremor severity. CONCLUSIONS: We present the clinical findings of a group of largely undiagnosed and untreated population-dwelling ET cases that would not otherwise have come to neurological attention. Approximately one-half reported functional difficulty and psychiatric symptoms were over-represented in these ET cases compared with matched controls. These findings suggest that ET, as it exists in the population, is not a completely benign entity.


Assuntos
Tremor Essencial/epidemiologia , Tremor Essencial/patologia , Idoso , Estudos de Casos e Controles , Feminino , Humanos , Modelos Lineares , Masculino , Pessoa de Meia-Idade , Turquia/epidemiologia
19.
Mult Scler Relat Disord ; 4(5): 403-405, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26346787

RESUMO

Sleep bruxism refers to a nocturnal parafunctional activity including the clenching, grinding or gnashing of teeth. While most of the nocturnal bruxism cases seen in the general population are apparently idiopathic, it has been reported to be associated with a range of neurological diseases such as Huntington's disease, cranio-cervical dystonia and post-anoxic brain damage, but not multiple sclerosis (MS). We describe three cases of MS patients who have had moderate to severe complaints of bruxism in the two weeks following their relevant MS attacks. None of the three patients had a diagnosis of bruxism prior to her attack. The diagnosis was confirmed in one out of three by a polysomnography. One patient did not have any complaints related to bruxism previous to her attack, whereas two had mild and infrequent complaints. The symptoms of the relevant attacks were left hemihypesthesia in all and hemiparesis in two. None of the patients had spasticity that could result in severe teeth clenching. All three patients presented with morning headaches and jaw pain or tightness and were treated successfully with botulinum toxin (Btx) injections applied to their masseter and temporalis muscles. The cause of bruxism is controversial but lesions of the cortico-basalganglia-thalamo-cotrical loops are thought to be most likely. However, acute or chronic lesions in those pathways were not demonstrated in the 3 patients. It is feasible that they had normal appearing white matter interruptions in their cortico-basalganglia-thalamocortical loops along with their relevant attack.


Assuntos
Toxinas Botulínicas Tipo A/administração & dosagem , Esclerose Múltipla/fisiopatologia , Fármacos Neuromusculares/administração & dosagem , Bruxismo do Sono/tratamento farmacológico , Bruxismo do Sono/fisiopatologia , Adulto , Encéfalo/fisiopatologia , Feminino , Humanos , Injeções Intramusculares , Masculino , Músculo Masseter/efeitos dos fármacos , Músculo Masseter/fisiopatologia , Esclerose Múltipla/complicações , Esclerose Múltipla/tratamento farmacológico , Vias Neurais/fisiopatologia , Polissonografia , Bruxismo do Sono/diagnóstico , Bruxismo do Sono/etiologia , Músculo Temporal/efeitos dos fármacos , Músculo Temporal/fisiopatologia
20.
Arch Neurol ; 61(3): 386-9, 2004 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-15023816

RESUMO

BACKGROUND: Body mass index (BMI) is an important health indicator. Individuals with a low BMI are more prone to various health problems and have an increased risk of mortality. A reduced BMI in essential tremor (ET) patients who were referred to a tertiary referral center was previously demonstrated. To our knowledge, this has not been confirmed in other groups of ET patients with different demographic characteristics or in a group of unselected ET patients living in the population. OBJECTIVE: To compare BMI in ET case and control subjects in a population-based study in the province of Mersin. INTERVENTIONS: The epidemiological survey used door-to-door examinations to evaluate 2253 residents in Mersin. There were 89 ET cases (mean age, 57.3 years) who were matched to 89 controls based on sex, ward (area of residence), and age. The BMI was calculated as weight in kilograms divided by the square of height in meters. RESULTS: The mean +/- SD BMI in ET cases was 26.0 +/- 4.3 vs 27.5 +/- 5.0 in controls (P =.04), representing, on average, a 5.5% reduction in cases. In a linear regression analysis that adjusted for age, sex, years of education, socioeconomic status, urban vs rural dwelling, cognitive screen score, and Cumulative Illness Rating Scale score, the BMI was lower in cases than in controls (P =.02). CONCLUSIONS: A reduction in BMI is a common accompaniment of neurodegenerative diseases; a mild reduction also seems to be a feature of ET. It is important for physicians to be aware of the potential for a low BMI in their ET patients so that nutrition can be addressed as part of the treatment plan.


Assuntos
Índice de Massa Corporal , Tremor Essencial/fisiopatologia , Inquéritos Epidemiológicos , Idoso , Estudos de Casos e Controles , Estudos Transversais , Tremor Essencial/epidemiologia , Feminino , Humanos , Modelos Lineares , Masculino , Pessoa de Meia-Idade , Exame Neurológico , Índice de Gravidade de Doença , Turquia/epidemiologia
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