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OBJECTIVES: The relationship of older antiseizure drugs with congenital malformations has been known for many years. Studies are mostly limited to major malformations and few studies have investigated minor malformations. In recent years, the long-term cognitive and behavioral effects of these drugs have also come to the fore. The aim of our study was to evaluate the incidence of major and minor congenital malformations and neurodevelopmental outcomes in children prenatally exposed to levetiracetam (LEV), lamotrigine (LTG), and carbamazepine (CBZ) monotherapy. METHODS: This was a prospective observational study conducted in two university hospital epilepsy centers. It included 32 pregnant women who were continuously treated with LEV, LTG, or CBZ from conception throughout pregnancy. Children were followed up from birth until 18 months. Neurodevelopmental outcomes were evaluated with the Ages and Stages Questionnaire and Denver Developmental Screening Test. RESULTS: Eighteen of the patients were on LEV, 10 were on LTG, and 4 were on CBZ. Diaphragmatic hernia was detected in a child. At least one minor anomaly was observed in 58.1% of the patients. More than 80% of children were normal in the Ages and Stages Questionnaire. CONCLUSIONS: The risk of major congenital malformations is lower with newer antiseizure drugs. We found a high incidence of minor ones. However, because the population prevalence of minor malformations is also variable, more studies are needed to confirm the results. Neurodevelopmental outcomes were favorable with LTG and LEV and slightly unfavorable with CBZ. Longer-term follow-up with large groups of children is required to reach more reliable results.
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BACKGROUND AND AIMS: This study aimed to identify the clinical characteristics and electrodiagnostic subtypes of Guillain-Barré syndrome (GBS) in Istanbul. METHODS: Patients with GBS were prospectively recruited between April 2019 and March 2022 and two electrodiagnostic examinations were performed on each patient. The criteria of Ho et al., Hadden et al., Rajabally et al., and Uncini et al. were compared for the differentiation of demyelinating and axonal subtypes, and their relations with anti-ganglioside antibodies were analyzed. RESULTS: One hundred seventy-seven patients were included, 69 before the coronavirus disease 2019 pandemic (April 2019-February 2020) and 108 during the pandemic (March 2020-March 2022), without substantial changes in monthly frequencies. As compared with the criteria of Uncini et al., demyelinating GBS subtype diagnosis was more frequent according to the Ho et al. and Hadden et al. criteria (95/162, 58.6% vs. 110/174, 63.2% and 121/174, 69.5%, respectively), and less frequent according to Rajabally et al.'s criteria (76/174, 43.7%). Fourteen patients' diagnoses made using Rajabally et al.'s criteria were shifted to the other subtype with the second electrodiagnostic examination. Of the 106 analyzed patients, 22 had immunoglobulin G anti-ganglioside antibodies (14 with the axonal subtype). They had less frequent sensory symptoms (54.5% vs. 83.1%, p = 0.009), a more frequent history of previous gastroenteritis (54.5% vs. 22.9%, p = 0.007), and a more severe disease as compared with those without antibodies. INTERPRETATION: Serial electrodiagnostic examinations are more helpful for accurate subtype diagnosis of GBS because of the dynamic pathophysiology of the disease. We observed no significant increase in GBS frequency during the pandemic in this metropolis.
Subject(s)
Guillain-Barre Syndrome , Humans , Prospective Studies , Neural Conduction/physiology , Electrodiagnosis/methods , Gangliosides , AntibodiesABSTRACT
OBJECTIVE: We aimed to investigate sleep disorders in patients with epilepsy (PWE) and to investigate the effects of sleep disorders on quality of life. METHODS: In our multicenter study conducted in Turkey, 1358 PWE were evaluated. The demographic and clinical data of the patients were recorded. The Insomnia Severity Index (ISI), Epworth Sleepiness Scale (ESS), Pittsburgh Sleep Quality Index (PSQI), Beck Depression Inventory (BDI), and Quality of Life in Epilepsy Inventory-10 (QOLIE-10) were administered. RESULTS: The mean age of 1358 patients was 35.92⯱â¯14.11 (range, 18-89) years. Seven hundred fifty-one (55.30â¯%) were women. Some 12.7â¯% of the patients had insomnia (ISIâ¯>â¯14), 9.6â¯% had excessive daytime sleepiness (ESSâ¯>â¯10), 46.5â¯% had poor sleep quality (PSQIâ¯>â¯5), and 354 patients (26.1â¯%) had depressive symptoms (BDIâ¯>â¯16). The mean QOLIE-10 score was 22.82⯱â¯8.14 (10-48). Resistant epilepsy was evaluated as the parameter with the highest risk affecting quality of life Adjusted odds ratio (AORâ¯=â¯3.714; 95â¯% confidence interval (CI): [2.440-5.652]â¯<â¯0.001)). ISI (AORâ¯=â¯1.184; 95â¯% CI: [1.128-1.243]; pâ¯<â¯0.001), ESS (AORâ¯=â¯1.081; 95â¯% CI: [1.034-1.130]; pâ¯<â¯0.001), PSQI (AORâ¯=â¯0.928; 95â¯% CI: [0.867 - 0.994]; pâ¯=â¯0.034), BDI (AORâ¯=â¯1.106; 95â¯% CI: [1.084-1.129]; pâ¯<â¯0.001), epilepsy duration (AORâ¯=â¯1.023; 95â¯% CI: [1.004-1.041]; pâ¯=â¯0.014), were determined as factors affecting quality of life. SIGNIFICANCE: Sleep disorders are common in PWE and impair their quality of life. Quality of life can be improved by controlling the factors that may cause sleep disorders such as good seizure control, avoiding polypharmacy, and correcting the underlying mood disorders in patients with epilepsy.
Subject(s)
Epilepsy , Sleep Initiation and Maintenance Disorders , Sleep Wake Disorders , Female , Humans , Male , Epilepsy/complications , Quality of Life , Sleep , Sleep Initiation and Maintenance Disorders/complications , Sleep Wake Disorders/etiology , Surveys and Questionnaires , Turkey/epidemiology , Adolescent , Young Adult , Adult , Middle Aged , Aged , Aged, 80 and overABSTRACT
OBJECTIVE: Electroencephalogram (EEG), which is frequently used in the clinical practice of neurology, has also been investigated in eating disorders and some cortical dysfunctions have been reported. Based on this, we aimed to investigate EEG changes in pregnant women with hyperemesis gravidarum (HEG). MATERIALS AND METHODS: This case-control study was conducted on 66 pregnant women who applied to the Umraniye Training and Research Hospital, Department of Obstetrics and Gynecology. The study group consisted of 34 pregnant women diagnosed with HEG. The control group consisted of 32 healthy pregnant women who were matched with the HEG group in terms of age and gestational week. EEGs of the participants were performed with a Micromed Brain Rapid EEG device in the Neurology Department of Umraniye Training and Research Hospital. In EEGs, all channels were selected as bipolar and samples of 18 channels (Fp2-F4, F4-C4, C4-P4, P4-O2, Fp2-F8, F8-T4, T4-T6, T6-O2, Fz-Cz, Cz-Pz, Fp1-F3, F3-C3, C3-P3, P3-O1, Fp1-F7, F7-T3, T3-T5, and T5-O1) were obtained. EEG signals were sampled with a sampling frequency of 200 Hz and digitized with 12-bit resolution. EEG signals were converted to EDF (European Data Format) extension files using the MATLAB software program and analyzed using statistical features on the time and frequency axis. HEG and control groups were compared in terms of signals obtained from these 18 selected channels. RESULTS: Both groups were similar in terms of mean age, gestational age, and parity (p>0.05). Among the 18 channels, significant changes were detected between the two groups only in the theta, beta, and gamma bands in the C4-P4 channel and the delta, beta, and gamma bands in the T4-T6 channel (p<0.05). No significant changes were detected in the channels and bands. CONCLUSION: Theta, beta, and gamma band abnormalities in the centro-parietal area of the right hemisphere and delta, beta, and gamma band abnormalities in the temporal area of the right hemisphere were observed on HEG. However, it is unclear whether abnormalities in EEG are primary changes responsible for the development of HEG or secondary to metabolic and hormonal changes resulting from HEG itself.
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BACKGROUND: Chronic inflammatory demyelinating neuropathy has been reported after the use of tumor necrosis factor inhibitors. The mechanisms of nerve injury caused by tumor necrosis factor inhibitors are not yet well understood. CASE: In this paper, we report a 12 year and nine month old girl who developed chronic inflammatory demyelinating neuropathy in the course of juvenile idiopathic arthritis after etanercept withdrawal. She became non-ambulant with four-limb involvement. She received intravenous immunoglobulins, steroids, and plasma exchange, but had a limited response. Finally, rituximab was given and a slow, but progressive clinical improvement was seen. She was ambulant four months after rituximab treatment. We considered chronic inflammatory demyelinating neuropathy as a probable adverse effect of etanercept. CONCLUSIONS: Tumor necrosis factor inhibitors could elicit the demyelinating process, and chronic inflammatory demyelinating neuropathy might persist despite treatment discontinuation. First-line immunotherapy may be inefficient as in our case, and aggressive treatment may be necessary.
Subject(s)
Arthritis, Juvenile , Etanercept , Polyradiculoneuropathy, Chronic Inflammatory Demyelinating , Female , Humans , Arthritis, Juvenile/drug therapy , Etanercept/adverse effects , Immunoglobulins, Intravenous/therapeutic use , Rituximab/therapeutic use , Tumor Necrosis Factor Inhibitors/adverse effects , Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/chemically induced , Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/drug therapy , ChildABSTRACT
BACKGROUND: Autoimmune encephalitis (AIE) and paraneoplastic syndromes (PNS) are both rare groups of neurological diseases that are difficult to diagnose. AIM: We aimed to determine the common and distinct aspects of these two aetiologies of encephalitis as well as the characteristics of our patient group. METHODS: We respectively analysed the records of the patients including symptoms, demographic features, neurological examination, cranial-magnetic-resonance-imaging (MRI), electroencephalography (EEG) findings, cerebrospinal fluid results (CSF) findings. Autoimmune/paraneoplastic autoantibodies in blood and/or CSF were all documented. RESULTS: Forty-six patients fulfilled the diagnostic criteria. Thirty-eight of them were diagnosed with AIE, and 8 of them were diagnosed with PNS. The PNS group had higher nonconvulsive status epilepticus than the AIE (2/8 vs 0/38; p=0.027). PNS patients were diagnosed with a malignancy in their follow-ups more than those in the AIE group [4/38 vs 8/8] (p<0.001). When the symptoms of antibody-positive and negative patients were compared in the AIE group, the rates of consciousness/memory problems (13/15 vs 11/23; p=0.020) and speech impairment (8/15 vs 2/23; p=0.004) were significantly higher in patients without antibodies (n: 15) than in antibody-positive patients (n: 23). In antibody-negative groups, the rates of memory problems in neurological examination (13/15 vs 12/23 p=0.028) and temporal findings on electroencephalography were more prominent than antibody-positive groups (1/23 vs 5/15; p=0.027). The number of patients with cerebellar signs was higher in antibody-positive patients (6/23 vs 0/15; p=0.038). CONCLUSION: Although the positivity of autoantibodies is critical in the diagnosis of AIE and PNS, even minor differences in clinical and laboratory findings of patients are helpful in the diagnosis, especially in the autoantibody-negative patients. Comparing the data with other population studies has shown that several inherited and environmental factors may contribute to the pathophysiology of AIE and PNS, as well as clinical and laboratory differences.
Subject(s)
Encephalitis , Paraneoplastic Syndromes , Autoantibodies , Encephalitis/diagnosis , Encephalitis/epidemiology , Hashimoto Disease , Humans , Turkey/epidemiologyABSTRACT
OBJECTIVE: The link between headache and epilepsy is more prominent in patients with idiopathic/genetic epilepsy (I/GE). We aimed to investigate the prevalence of headache and to cluster patients with regard to their headache and epilepsy features. METHODS: Patients aged 6-40 years, with a definite diagnosis of I/GE, were consecutively enrolled. The patients were interviewed using standardized epilepsy and headache questionnaires, and their headache characteristics were investigated by experts in headache. Demographic and clinical variables were analyzed, and patients were clustered according to their epilepsy and headache characteristics using an unsupervised K-means algorithm. RESULTS: Among 809 patients, 508 (62.8%) reported having any type of headache; 87.4% had interictal headache, and 41.2% had migraine. Cluster analysis revealed two distinct groups for both adults and children/adolescents. In adults, subjects having a family history of headache, ≥5 headache attacks, duration of headache ≥ 24 months, headaches lasting ≥1 h, and visual analog scale scores > 5 were grouped in one cluster, and subjects with juvenile myoclonic epilepsy (JME), myoclonic seizures, and generalized tonic-clonic seizures (GTCS) were clustered in this group (Cluster 1). Self-limited epilepsy with centrotemporal spikes and epilepsy with GTCS alone were clustered in Cluster 2 with the opposite characteristics. For children/adolescents, the same features as in adult Cluster 1 were clustered in a separate group, except for the presence of JME syndrome and GTCS alone as a seizure type. Focal seizures were clustered in another group with the opposite characteristics. In the entire group, the model revealed an additional cluster, including patients with the syndrome of GTCS alone (50.51%), with ≥5 attacks, headache lasting >4 h, and throbbing headache; 65.66% of patients had a family history of headache in this third cluster (n = 99). SIGNIFICANCE: Patients with I/GE can be clustered into distinct groups according to headache features along with seizures. Our findings may help in management and planning for future studies.
Subject(s)
Epilepsy, Generalized , Myoclonic Epilepsy, Juvenile , Adolescent , Adult , Child , Cluster Analysis , Cohort Studies , Electroencephalography , Epilepsy, Generalized/diagnosis , Headache/epidemiology , Humans , SeizuresABSTRACT
PURPOSE: Pseudo-vestibular neuritis is a clinical diagnosis for patients presenting with acute vestibular syndrome due to a central pathology. CASE REPORT: We reported a case of multiple sclerosis characterized by pseudo-vestibular neuritis. Our case was a 32-year-old male patient. The patient, who was diagnosed with multiple sclerosis in September 2019, came to the emergency clinic in January 2020 with the complaint of severe vertigo, vomiting-nausea. A newly developed demyelinating plaque was detected in the left vestibular nucleus in cranial MRI. The patient had no hearing loss. On examination of the patient, nystagmus findings supporting peripheral vestibular involvement were present on the left side. Neurologic examination showed left-sided hyperactive deep tendon reflexes, Achilles clonus, dysmetria, ataxia to the left and plantar reflex with extensor response on the left. Video head impulse test and cervical evoked myogenic potential tests were performed. Vestibular hypofunction was present on the left side. Steroid pulse therapy was administered as 1000 mg/day, i.v for 7 days. After treatment, his complaints decreased. In addition, there was an improvement in examination findings. CONCLUSION: Multiple sclerosis is shown to be an etiological factor in patients with pseudo-vestibular neuritis.
Subject(s)
Multiple Sclerosis , Nystagmus, Pathologic , Vestibular Neuronitis , Adult , Head Impulse Test , Humans , Male , Multiple Sclerosis/diagnosis , Multiple Sclerosis/diagnostic imaging , Nausea , Nystagmus, Pathologic/diagnosis , Nystagmus, Pathologic/etiology , Vertigo/diagnosis , Vertigo/etiology , Vestibular Neuronitis/complications , Vestibular Neuronitis/diagnosis , VomitingABSTRACT
PURPOSE: To investigate the possible relationship between eye closure sensitivity (ECS) and genetic generalized epilepsy (GGE) in terms of epilepsy syndromes, photosensitivity (PS), and prognosis. METHOD: One hundred and twenty-three patients diagnosed with GGE were classified according to epilepsy syndromes. Among them, ECS and PS were detected in repeated video-EEGs. In patients with ECS, the impact of sleep deprived EEG on awakening on ECS was evaluated. To explore the ECS as a possible accurate predictor designating the prognosis in GGEs, we defined the ECS rate in poor prognosis group (n = 21) and in patients without antiseizure drug (ASD) treatment and seizure-free for at least for 2-5 years (n = 20). RESULTS: ECS was found in almost all types of GGE but at different rates. ECS was detected in all groups with highest rate in eyelid myoclonia with or without absences (EMA). Sleep deprived EEG on awakening was performed in 44 of 59 patients with ECS and enhanced ECS prominently. In all groups except EMA, PS rate was lower compared with ECS. Both ECS and PS were observed in 15 patients with poor prognosis (71 %) and one patient with good prognosis (5%). CONCLUSIONS: ECS can occur in all types of the GGEs. We claim that ECS can be asserted as a syndrome-specific feature for EMA among GGEs. Sleep deprived EEG on awakening can enhance ECS prominently in all types of GGE. ECS and PS might overlap but their impact on prognosis is different. In the poor prognosis group, the number of patients having ECS together with PS was high compared to the group without ASD and excellent prognosis. Therefore, we suggest that this combination predicts worse outcome in GGEs.
Subject(s)
Epilepsy, Generalized , Epileptic Syndromes , Myoclonus , Electroencephalography , Epilepsy, Generalized/diagnosis , Epilepsy, Generalized/drug therapy , Epilepsy, Generalized/genetics , Humans , Prospective StudiesABSTRACT
OBJECTIVE: The aim of this study was to determine the type, etiology and the rates of epilepsy and to identify accompanying cognitive and behavioral problems in patients with epileptiform abnormalities in the posterior cerebral localization. METHODS: In this study, 3500 patients with at least one EEG record at the EEG Laboratory of Clinical Child Neurology Department of Cerrahpasa Medical Faculty of Istanbul University were evaluated in 2014-2015. Three hundred forty-six patients were included in the study. RESULTS: Of the 346 patients included in the study, 42.4% were female and 57.5% were male. The age range of the cases was 1-21 (mean: 8.7) years. Epileptiform activities were observed in post TPO region isolatedly in 58,95% (n = 204), post-TPO epileptiform focus with focal epileptiform focus in different localizations in 31.21% (n = 108), generalized epileptiform activity with more than one epileptiform focus in 9.8% (n= 34). In the period of EEG examinations 250 (72.25%) patients had a history of epileptic seizures and / or epilepsy, while 96 (27.74%) had non-epileptic clinical conditions such as behavioral disorder and autism. CONCLUSION: In the EEG recordings we examined, sharp and spike wave activities were frequently observed in the post TPO region isolatedly. We believe that this study, which investigated the relationship between focal epilptiform activity in post TPO region and different clinical conditions, will serve as an example for other studies.
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Autistic Disorder , Epilepsy , Adolescent , Adult , Child , Child, Preschool , Electroencephalography , Female , Humans , Infant , Male , Occipital Lobe , Seizures , Young AdultABSTRACT
Epileptic vertigo is often a diagnostic problem. We aimed to present the clinical and electrophysiological features of patients with epileptic vertigo with a view to addressing the pathophysiology of this rare aura symptom. Nine epileptic vertigo patients were included in the study. All patients were subjected to neuro-otologic examination, interictal electroencephalogram (EEG), audiogram, cervical vestibular evoked myogenic potential testing (cVEMP), video head impulse testing (vHIT) and brain magnetic resonance imaging (MRI). Eight patients described their aura as epileptic vertigo and one as dizziness. In three patients, auditory hallucinations preceded epileptic vertigo. The semiology of epileptic vertigo was true vertigo in five patients, vertigo with nausea in two patients and vertigo with hearing loss in one patient. Two patients suffered from focal seizures, and in seven patients the seizures were evaluated as focal to bilateral tonic-clonic seizures. MRI was normal in all patients. EEG was abnormal in all cases and showed high-voltage spike or spike-slow-wave complexes, or both, located more frequently in the temporal region, more left than right. On vHIT examination, abnormal responses were recorded bilaterally or unilaterally in five patients. Similarly, cVEMP revealed no response bilaterally or unilaterally in five patients. In three patients, the side of no response to cVEMP corresponded to the side of epileptiform pathology based on EEG. Two patients with bilateral abnormalities on EEG showed bilateral abnormalities either on cVEMP or vHIT, or on both. Taken together, these findings support the involvement of the brainstem connections of the peripheral vestibular system in vertiginous epilepsy. The pathological results of vestibular tests in the majority of our patients, combined with the EEG abnormalities, support the hypothesis of system epilepsies which is based on the dysfunction of specific neural systems.
Subject(s)
Brain Stem/physiopathology , Electroencephalography , Epilepsy/diagnosis , Epilepsy/physiopathology , Vertigo/diagnosis , Vertigo/physiopathology , Vestibular Evoked Myogenic Potentials/physiology , Adult , Brain Stem/diagnostic imaging , Epilepsy/complications , Female , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Vertigo/etiology , Vestibular Function TestsSubject(s)
Hypoglossal Nerve Injuries/etiology , Postoperative Complications/etiology , Recurrent Laryngeal Nerve Injuries/etiology , Thyroidectomy/adverse effects , Vocal Cord Paralysis/etiology , Adult , Deglutition Disorders/etiology , Dysphonia/etiology , Female , Hoarseness/etiology , Humans , Hypoglossal Nerve/surgery , Medical Illustration , Recurrent Laryngeal Nerve/surgery , SyndromeABSTRACT
Background Vascular dysfunction dominates the clinical picture of peripheral autonomic neuropathy in lower extremity. Patients and Methods We have studied functional changes of leg vasculature in 30 patients with chronic ulceration due to peripheral autonomic neuropathy between clinical stages 1 and 3. They suffered from lower extremity wounds. After sympathetic skin response test, pedal arterial blood flow analysis including peak systolic velocity (PSV) and pulsatility index (PI) was made by duplex ultrasonography (DUS) in involved legs. Vascular anatomy of leg was also examined by magnetic resonance angiography. Results The mean PSV value was found 58.32 cm/s in stage 1, 35.31 cm/s in stage 2, and 15.71 cm/s in stage 3. The mean PI value was observed 1.17 in stage 1, 1.43 in stage 2, and 1.87 in stage 3. In chronic stage 3, three patients had inadequate arterial blood supply and recurrent ulcer. Conclusions We suggest that reduced sympathetic activity due to small fiber neuropathy causes temporal variations in leg blood flow. There was a nonlinear relationship between vascular functional changes and stages of disease with increased, intermediate, and decreased blood flow, respectively. DUS assessment of pedal arteries contributed to differentiation of clinical stages and permitted vascular evaluation in the course of peripheral autonomic neuropathy.
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The rare syndrome of perioral myoclonia with absences (POMA) is described as a specific type of idiopathic generalized epilepsy in which absence seizures are accompanied by prominent perioral myoclonus as a consistent symptom. We present a 52-year-old man who was referred to our department due to treatment-resistant epilepsy. Typical seizures were described as rhythmic twitching of the lips which started at six years old, and his first convulsive seizure occurred at around 20 years old. Based on video-EEG recordings, we present two distinct EEG patterns accompanied by slight differences in clinical manifestations, which appear to be atypical of POMA. Firstly, consciousness was preserved during seizures, with no manifestation of absences. Secondly, regarding the EEG features, in some of the seizures, the perioral motor symptoms were tonic rather than myoclonic. The defining features of POMA are discussed in relation to this case.
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Brain/physiopathology , Drug Resistant Epilepsy/diagnosis , Epilepsies, Myoclonic/diagnosis , Seizures/diagnosis , Drug Resistant Epilepsy/physiopathology , Electroencephalography , Epilepsies, Myoclonic/physiopathology , Humans , Male , Middle Aged , Seizures/physiopathologyABSTRACT
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.
Subject(s)
Genetic Predisposition to Disease/genetics , Mitochondrial Proteins/genetics , Mutation/genetics , Neurodegenerative Diseases/genetics , Adolescent , Adult , Child , DNA Mutational Analysis , Family Health , Female , Haplotypes , Humans , Image Processing, Computer-Assisted , Magnetic Resonance Imaging , Male , Methionine/genetics , Neurodegenerative Diseases/complications , Neurodegenerative Diseases/diagnostic imaging , Threonine/genetics , Turkey , Young AdultABSTRACT
OBJECTIVE: Vestibular migraine (VM) is a clinical condition characterized by temporal overlap between vestibular symptoms and migraine. In this study, we aimed to determine the changes in vestibular myogenic potential (cVEMP) and auditory brainstem response (ABR) in patients with VM and migraine. MATERIALS AND METHODS: A total of 86 participants with no hearing loss or additional disease between the ages of 18 and 45 were enrolled in three different groups: group 1, VM; group 2, migraine without aura; and group 3, healthy controls. cVEMP and ABR were performed for all participants during attacks and attack-free periods. The differences between the right and left sides were calculated. RESULTS: There was no significant difference in cVEMP p13-n23 latencies between any of the groups. There were statistically significant differences related to cVEMP p13-n23 amplitudes between groups 1, 2, and 3. This significant difference originated from group 1 when compared with the other groups (p<0.05). When we compared the cVEMP results of patients with VM during attack and attack-free periods, a statistically significant decrease was determined in the p13-n23 amplitude values during the attack period (p<0.01). Additionally, when we compared group 1 and group 3, the wave V peak latencies in ABR were significantly prolonged in group 1 (p<0.05). CONCLUSION: cVEMP and ABR can be used as diagnostic criteria for patients with VM during attacks. Further studies with larger groups are needed to verify our findings.
Subject(s)
Evoked Potentials, Auditory, Brain Stem/physiology , Migraine Disorders/complications , Migraine Disorders/physiopathology , Vestibular Diseases/complications , Vestibular Diseases/physiopathology , Vestibular Evoked Myogenic Potentials/physiology , Adult , Case-Control Studies , Female , Humans , Male , Migraine Disorders/diagnosis , Reaction Time/physiology , Vestibular Diseases/diagnosis , Young AdultABSTRACT
Purpose. To evaluate the relationship between internal carotid artery (ICA) stenosis and subfoveal choroidal thickness (SFCT) in the elderly population. Methods. A total of 42 eyes of 21 patients with more than 70% ICA stenosis (Group 1) on one side and less than 70% stenosis (Group 2) on the other side were recruited for this study. ICA stenosis was diagnosed using both the B-mode and Doppler ultrasound. The two groups were compared in terms of the percentage of stenosis, SFCT measurements, intraocular pressure, ocular perfusion pressure, refractive error, and peak systolic velocity. Eyes were examined with the RTVue-100 OCT device by the EDI-OCT technique. Results. The mean age of the patients was 71.9 ± 10.8 years. The mean percentage of ICA stenosis was 74 ± 4.9% in Group 1 and 47.5 ± 7.7% in Group 2. The mean SFCT was 231.9 ± 44.6 µm in Group 1 and 216.2 ± 46.8 µm in Group 2, which was significantly lower (P = 0.028). A statistically significant positive correlation was found between the percentage of internal carotid artery stenosis and SFCT (r = 0896, P = 0.001). Conclusions. Compensatory SFCT increase can be seen in ipsilateral internal carotid artery stenosis greater than 70%.
ABSTRACT
Myoclonus-dystonia syndrome (MDS) is a rare disease manifesting myoclonus as the only neurological symptom which may be accompanied by dystonia. It usually starts in the first or second decade of life. It has a benign course with spontaneous remissions but can cause functional disability in some patients. In this paper, we report a patient diagnosed as probable MDS on the basis of clinical and electrophysiological features who showed marked improvement under levetiracetam treatment.