RESUMEN
Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by progressive degeneration of the central nervous system and high basal ganglia iron deposition. The list of identified causative genes for NBIA syndromes continues to expand and includes one autosomal dominant, one X-linked, and a number of recessive forms. Mitochondrial membrane protein-associated neurodegeneration is a recently described NBIA syndrome caused by C19orf12 mutations. In this study, we report two consanguineous families with a homozygous C19orf12 p.Thr11Met mutation. Our patients presented at a later age and had more rapid disease progression, leading to early death in two, than those previously reported. We conclude that C19orf12 mutation is associated with wide phenotypic heterogeneity, and that further research is needed to examine the role of C19orf12 in NBIA and related diseases and to elucidate its protein function as well as other factors that may affect disease progression and expression.
Asunto(s)
Proteínas de la Membrana/genética , Proteínas Mitocondriales/genética , Enfermedades Neurodegenerativas/genética , Adulto , Edad de Inicio , Encéfalo/metabolismo , Encéfalo/patología , Cromosomas Humanos Par 19 , Consanguinidad , Progresión de la Enfermedad , Resultado Fatal , Humanos , Pérdida de Heterocigocidad , Imagen por Resonancia Magnética , Masculino , Proteínas de la Membrana/metabolismo , Proteínas Mitocondriales/metabolismo , Mutación , Enfermedades Neurodegenerativas/diagnóstico , Enfermedades Neurodegenerativas/metabolismo , Linaje , Polimorfismo de Nucleótido SimpleRESUMEN
BACKGROUND AND PURPOSE: To evaluate the phenotype and the frequencies of mutations in PRKN, DJ1 and PINK1 genes in patients with Parkinson disease (PD) in Turkey. METHODS: Eighty-six patients from 77 PD families participated in the study. Seventy-four families were originating from Turkey, two families from Greece and one family from Bulgaria. All patients underwent detailed neurological examination. PRKN, PINK1 and DJ1 genes were sequenced, and dosage analysis was performed by multiplex ligation-dependent probe amplification. RESULTS: Sixteen patients with PD were found to carry homozygous (n = 14) or compound heterozygous (n = 2) PRKN mutations. We identified exon rearrangements, three point mutations and one new point mutation in exon 2 (p.K27del). In two families, two new PINK1 point mutations (L31X and P416L) were identified. No pathogenic mutations were found in DJ1 gene. Clinical phenotypes of PRKN patients were comparable to previously described features, but only in four of 13 families, the pedigree structure was clearly consistent with an autosomal recessive (AR) mode of inheritance in comparison with nine families where also different pattern of transmission could have been possible. CONCLUSIONS: Our data suggest that the PRKN gene mutation is the most frequent form of ARPD in Turkey. The proportion of mutations with regard to the age of onset in our population is in the range of those previously described, but our pedigrees are characterized by high rate of consanguinity, which might explain the high proportion of families with homozygous mutations and of patients in more than one generation. Pathogenic DJ1 mutations do not seem to play a major role in Turkey.
Asunto(s)
Péptidos y Proteínas de Señalización Intracelular/genética , Mutación/genética , Proteínas Oncogénicas/genética , Trastornos Parkinsonianos/genética , Fenotipo , Proteínas Quinasas/genética , Ubiquitina-Proteína Ligasas/genética , Adolescente , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Distribución de Chi-Cuadrado , Niño , Preescolar , Análisis Mutacional de ADN , Salud de la Familia , Femenino , Humanos , Masculino , Persona de Mediana Edad , Trastornos Parkinsonianos/epidemiología , Proteína Desglicasa DJ-1 , Factores Sexuales , Turquía/epidemiología , Adulto JovenRESUMEN
A 27-year-old woman was admitted to the Emergency Department with right upper-extremity numbness and mild weakness followed by a bifrontal throbbing headache for 30 min, which was similar to a headache lasting for 12 h that had occurred 3 days ago. Laboratory tests were unremarkable except for cerebrospinal fluid (CSF) lymphocytic pleocytosis. On the following day, a headache episode with left hemiparesis and hemihypoaesthesia, left hemifield visio-spatial inattention, anosagnosia and confusion recurred. The headache was diagnosed as headache and neurological deficits with cerebrospinal fluid lymphocytosis (HaNDL) syndrome according to the criteria of the second edition of the International Classification of Headache Disorders. Simultaneously performed magnetic resonance imaging (MRI) revealed swelling of the grey matter, CSF enhancement in the sulci of the right temporal and occipital regions and hypoperfusion of the same brain regions. During the following 10 days two more similar episodes recurred and during the ensuing 12 months the patient remained headache free. Neuroimaging findings of the HaNDL syndrome are always thought as virtually normal. MRI abnormalities in our patient have not been reported in HaNDL syndrome previously, although they have been reported in hemiplegic migraine patients before. The findings in our case suggest that hemiplegic migraine and HaNDL syndrome may share a common pathophysiological pathway resulting in similar imaging findings and neurological symptoms.
Asunto(s)
Encéfalo/patología , Cefalea/líquido cefalorraquídeo , Cefalea/patología , Linfocitosis/líquido cefalorraquídeo , Adulto , Femenino , Cefalea/complicaciones , Humanos , Imagen por Resonancia Magnética , Paresia/etiologíaRESUMEN
BACKGROUND AND PURPOSE: Mild action tremor is very common in the population. One fundamental question is whether this tremor is related to the neurological disease essential tremor (ET), which occurs in a much smaller segment of the population? ET is often genetic, and variable phenotypic expression is well-documented in the literature. We determined whether normal controls who report a family history of ET have greater action tremor than normal controls who do not report such a history. METHODS: Controls, enrolled in two epidemiological studies (New York and Turkey), were examined in detail and action tremor was rated using a valid and reliable clinical rating scale, resulting in a total tremor score (range 0-36). RESULTS: In New York, the total tremor score was higher in 44/406 (10.8%) controls who reported a family history of ET than in 362/406 controls with no such history (4.25 +/- 2.51 vs. 3.78 +/- 2.93, P = 0.02). Controls who reported a first-degree relative with ET had the highest total tremor scores. In Turkey, the total tremor score was higher in 7/89 (7.9%) controls with a family history than in 82/89 controls with no family history (3.43 +/- 4.54 vs. 1.13 +/- 2.54, P = 0.048). All affected relatives in Turkey were first-degree. CONCLUSIONS: These data suggest that some of the normal tremor exhibited by people in the population is likely to be subclinical, partially expressed ET and that the sphere of ET is wider than is apparent from a consideration of clinically diagnosed cases.
Asunto(s)
Temblor Esencial/epidemiología , Temblor/epidemiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Temblor Esencial/diagnóstico , Familia , Femenino , Humanos , Masculino , Persona de Mediana Edad , New York/epidemiología , Índice de Severidad de la Enfermedad , Temblor/diagnóstico , Turquía/epidemiología , Adulto JovenRESUMEN
BACKGROUND: This study investigated the effect of resin cement shade on the final color of computer aided design/computer aided manufacture (CAD/CAM) restorations. METHODS: Thirty CAD/CAM block specimens were fabricated (14×12×1.5 mm) by cutting blocks (Vita Mark II [VM], Vita Enamic [VE], and Lava Ultimate [LU]). Forty cement specimens were prepared (14×12×0.2 mm) using resin cement (RelyX Ultimate Tr, A1, A3O, Bl). Color measurements of CAD/CAM specimens were made without (control) and with each /shade of resin cement (test) with a spectrophotometer. Color differences (ΔE00) between the control and test groups were calculated and analyzed by 2-way ANOVA and subsequent pairwise testing. Comparisons were performed by using Tukey's multiple comparison tests (α=0.05). RESULTS: Both cement shade and interaction between cement shade CAD/CAM block type parameters were significant on color differences (P<0.05). A3O cement resulted in a clinically unacceptable color differences (ΔE00>2.25) for each tested CAD/CAM blocks. ΔE00 values of VM_A1 and VE_A1 groups were also higher than clinically unacceptable level (ΔE00>2.25). ΔE00 value of VE_Tr was lower than visually perceptible level (∆E00≤1.30). There was no statistically significant difference found between the ∆E00 values of CAD/CAM blocks in the same shade of cement groups (P>0.05). CONCLUSIONS: Tested CAD/CAM blocks were similarly affected by the cement shade and thus may have similar optical features.
Asunto(s)
Color , Resinas Compuestas/farmacología , Diseño Asistido por Computadora , Restauración Dental Permanente , Cementos de Resina/farmacología , Cerámica , Porcelana Dental , Humanos , Ensayo de Materiales , Propiedades de SuperficieAsunto(s)
Predisposición Genética a la Enfermedad/genética , Enfermedad de Parkinson/genética , Proteínas Serina-Treonina Quinasas/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Femenino , Humanos , Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/epidemiología , Turquía/epidemiología , Adulto JovenRESUMEN
BACKGROUND: Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common form of complex hereditary spastic paraplegia. The genetic lesion underlying ARHSP-TCC was localized to chromosome 15q13-q15 and given the designation SPG11. Recently, the gene encoding spatacsin (KIAA1840) has been shown to contain mutations that underlie the majority of ARHSP-TCC cases. METHODS: We present a complete analysis of the 40 coding exons of this gene in patients with sporadic (n = 25) or familial (20 probands) complex hereditary spastic paraplegia with and without thinning of the corpus callosum. RESULTS: We identified seven mutations, including deletions, insertions, and nonsense mutations, which were all predicted to lead to premature truncation of the protein. CONCLUSION: We conclude that mutations on KIAA1840 are frequent in complex autosomal recessive hereditary spastic paraplegia but an infrequent cause of sporadic complex hereditary spastic paraplegia.
Asunto(s)
Genes Recesivos/genética , Mutación/genética , Linaje , Proteínas/genética , Paraplejía Espástica Hereditaria/diagnóstico , Paraplejía Espástica Hereditaria/genética , Adolescente , Adulto , Cuerpo Calloso/patología , Cuerpo Calloso/fisiología , Femenino , Ligamiento Genético/genética , Humanos , Masculino , Paraplejía Espástica Hereditaria/patologíaRESUMEN
BACKGROUND AND OBJECTIVES: Restless legs syndrome (RLS) is an important and common cause of insomnia, and previous studies indicate that psychiatric wellbeing may be impaired among RLS patients. We aimed to investigate the interaction between anxiety/depression and RLS in a population based survey. METHODS: Data were drawn from the Mersin University Neuro-Epidemiology Project, a representative community sample of adults aged over 17 years residing in Mersin (n = 3234). Subjects found to be positive for RLS (n = 103) were evaluated for symptoms of anxiety and depression using the Hamilton Anxiety and Depression Scales and compared with the same number of contemporaneous control subjects. RESULTS: Significantly greater anxiety and depression symptoms were observed among patients with RLS than in the control subjects. Our data also seem to provide initial evidence of a correlation between the severity of RLS and of anxiety and depression symptoms (r = 0.21, p = 0.03 and r = 0.201, p = 0.04 respectively). CONCLUSIONS: Assessment of psychiatric status of RLS patients can be helpful and sometimes necessary to determine additional features and treatment strategies of this bothering condition. Further studies are needed to replicate our findings using longitudinal data.
Asunto(s)
Ansiedad/diagnóstico , Ansiedad/epidemiología , Depresión/diagnóstico , Depresión/epidemiología , Síndrome de las Piernas Inquietas/diagnóstico , Síndrome de las Piernas Inquietas/epidemiología , Adolescente , Adulto , Áreas de Influencia de Salud , Comorbilidad , Demografía , Femenino , Humanos , Masculino , Vigilancia de la Población , Índice de Severidad de la Enfermedad , Encuestas y Cuestionarios , Turquía/epidemiologíaRESUMEN
UNLABELLED: Serum total cholesterol (TC), high-density lipoprotein (HDL-C), low-density lipoprotein (LDL-C) and very low-density lipoprotein cholesterol, triglyceride, apolipoproteins A1 and B levels were studied in 57 healthy children and in 39 children with epilepsy who had been receiving carbamazepine (CBZ) (23 children) for 1.58 +/- 1.10 years or valproic acid (VPA) (16 children) for 1.34 +/- 1.11 years. In patients receiving CBZ, mean TC level, mean LDL-C level, mean TC/HDL-C ratio and mean LDL-C/HDL-C ratio-were significantly higher than controls. None of the mean levels of serum lipids evaluated in patients receiving VPA was significantly different from the corresponding control group mean. Changes in serum lipids correlated with neither duration of therapy or plasma antiepileptic levels nor age or gender. CONCLUSION: Our results suggested that CBZ, a hepaticenzyme-inducing drug, affects serum lipid status. Long-term prospective studies are necessary to determine whether chronic CBZ therapy is a risk factor for atherosclerotic disorders.
Asunto(s)
Anticonvulsivantes/farmacología , Carbamazepina/farmacología , Epilepsia/tratamiento farmacológico , Lípidos/sangre , Ácido Valproico/farmacología , Adolescente , Análisis de Varianza , Anticonvulsivantes/uso terapéutico , Apolipoproteínas/sangre , Carbamazepina/uso terapéutico , Estudios de Casos y Controles , Niño , Preescolar , Colesterol/sangre , Femenino , Humanos , Masculino , Triglicéridos/sangre , Ácido Valproico/uso terapéuticoRESUMEN
To evaluate the long-term efficacy of non-surgical treatment methods for mild and moderate carpal tunnel syndrome, 120 patients with clinical symptoms and electrophysiologic evidence were included in a prospective, randomized and blinded trial: 60 patients were instructed to wear splints every night, 30 received injections of betamethasone 4 cm proximal to the carpal tunnel, and 30 received injections distal to the carpal tunnel. After approximately 1 year (mean, 11 months; range, 9-14), 108 patients were available for final evaluation. We assessed clinical symptom severity and performed detailed electrophysiologic examinations before and after treatment. Splinting provided symptomatic relief and improved sensory and motor nerve conduction velocities at the long-term follow-up when the splints were worn almost every night. Proximal and distal injections of steroids were ineffective on the basis of both clinical symptoms and electrophysiologic findings.
Asunto(s)
Betametasona/administración & dosificación , Síndrome del Túnel Carpiano/terapia , Glucocorticoides/administración & dosificación , Férulas (Fijadores) , Adulto , Anciano , Síndrome del Túnel Carpiano/diagnóstico , Método Doble Ciego , Electromiografía , Electrofisiología , Estudios de Seguimiento , Humanos , Inyecciones Intraarticulares , Persona de Mediana Edad , Conducción Nerviosa/efectos de los fármacos , Conducción Nerviosa/fisiología , Estudios Prospectivos , Índice de Severidad de la Enfermedad , Resultado del Tratamiento , Articulación de la MuñecaRESUMEN
OBJECTIVE: To determine the prevalence, risk factors, and clinical presentation of restless legs syndrome (RLS) in a Turkish population. METHODS: A face-to-face, population-based epidemiologic survey was conducted. Multistep, stratified, cluster, and systematic samplings were used. A total of 3,234 adults were interviewed. RESULTS: Of the 3,234 participants, 103 (3.19%) experienced RLS. This prevalence rate is lower than those of other epidemiologic studies conducted among European and North American populations. RLS was found to be more common among women, cigarette smokers, and individuals residing in high altitudes. The self-reported mental and general health status of patients was worse than in the control subjects. The prevalence of RLS did not differ by age or body mass index. CONCLUSION: The discrepancy in RLS prevalence studies (including the authors') suggests that prevalence varies among different races, thus supporting a genetic predisposition.
Asunto(s)
Síndrome de las Piernas Inquietas/diagnóstico , Síndrome de las Piernas Inquietas/epidemiología , Adolescente , Adulto , Anciano , Estudios Transversales , Demografía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Prevalencia , Síndrome de las Piernas Inquietas/complicaciones , Factores de Riesgo , Turquía/epidemiologíaRESUMEN
Estimates of the prevalence of essential tremor (ET) are probably low because screening questionnaires have been used. The authors estimated the prevalence of ET in Mersin Province, Turkey, in 2,253 individuals aged >or=40 years, all of whom were examined by study neurologists. There were 89 ET cases (prevalence = 4.0%, 95% CI = 3.2 to 4.8%). The prevalence of ET may be higher than previously estimated. This is important when defining the extent of the health care problem.