Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration.

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.

Genetic bases and phenotypes of autosomal recessive Parkinson disease in a Turkish population.

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.

Abnormal MRI in a patient with 'headache with neurological deficits and CSF lymphocytosis (HaNDL)'.

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.

The relationship between migraine and atopic disorders-the contribution of pulmonary function tests and immunological screening.

This cross-sectional clinical study was conducted in order to explore the relationship between atopic disorders and migraine. We evaluated 186 consecutive patients with migraine. Patients with a history of atopic disorders were compared with the others during headache-free intervals, for their headache characteristics, pulmonary test (PFT) performances and immunological screenings, through appropriate statistical methods. Of the patients with migraine, 77 (41.4%) reported at least one atopic disorder. PFT screening showed a general decreased pulmonary capacity and an important correlation between a positive history of atopic disorders and both increased eosinophil and IgE levels in headache-free periods. It should be discussed whether screening with PFT or immunological tests helps in early detection of progressive lung disease which might develop in these patients.

Long-term effectiveness of steroid injections and splinting in mild and moderate carpal tunnel syndrome.

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.

Correlation of anxiety and depression symptoms in patients with restless legs syndrome: a population based survey.

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.

Prevalence of essential tremor: door-to-door neurologic exams in Mersin Province, Turkey.

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.

Unexpectedly low prevalence and unusual characteristics of RLS in Mersin, Turkey.

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.

The sensitivity and specificity of the case definition criteria in diagnosis of headache: a school-based epidemiological study of 5562 children in Mersin.

The objectives of the present study were to estimate the prevalence of recurrent headaches in schoolchildren (ranging from 2nd to 5th degrees) in Mersin city of Turkey and to determine the sensitivity, specificity, positive predictive value and positive likelihood ratio of the diagnostic headache characteristics in children with migraine and Tension Type Headache (TTH) using neurologist's diagnosis as the gold standard. The stratified sample of study was composed of 5562 children. The prevalence of recurrent headache was 49.2% (2739 of 5562) and the prevalence of current headache was 31.3% (859 of 2739). TTH was more common than migraine (24.7% vs. 10.4%). The most sensitive headache characteristic for migraine was 'severity of pain' and the most sensitive definitive symptom is 'duration of headache' in children with TTH. IHS-based symptom definition criteria are highly beneficial in diagnosis of childhood headache, if used together with detailed clinical assessment.

The sensitivity and specificity of the case definition criteria in diagnosis of headache: a school-based epidemiological study of 5562 children in Mersin.

The objectives of the present study were: (i) to estimate the prevalence of recurrent headaches in schoolchildren (ranging from 2nd to 5th degrees) in Mersin city of Turkey; (ii) to determine the sensitivity, specificity, positive predictive value and positive likelihood ratio of the diagnostic headache characteristics in children with migraine and tension-type headache (TTH) using neurologist's diagnosis as the gold standard. The stratified sample of study was composed of 5562 children. The prevalence of recurrent headache was 49.2% (2739 of 5562) and the prevalence of current headache was 31.3% (859 of 2739). TTH was more common than migraine (24.7% vs. 10.4%). The most sensitive headache characteristic for migraine was 'severity of pain' and the most sensitive definitive symptom was 'duration of headache' in children with TTH. International Headache Society-based symptom definition criteria are highly beneficial in diagnosis of childhood headache, if used together with detailed clinical assessment.