The widespread use of immunosuppressive agents has significantly increased the rates of successful solid-organ and stem cell transplants, especially with liver and kidney. Cyclosporine and tacrolimus ...are most commonly used for this purpose. Although these agents have different mechanisms of action, both have various adverse effects, including nausea, vomiting, headache, hypertension, nephrotoxicity, and rarely epileptic seizures. In our first case, a patient presented with epileptic seizures and hemiparesis after a liver transplant, and posterior reversible encephalopathy syndrome related to cyclosporine toxicity was considered. Once cyclosporine levels in the blood decreased, the patient had both clinical and radiologic improvements. In our second case, a patient presented with delirium after a liver transplant. Again, when cyclosporine levels in the blood decreased, the patient showed improvement in clinical findings. Neurologic complications may develop after liver transplant, and these complications are encountered most frequently within the first postoperative month. Neurologic complications are multifactorial; insufficient graft function, intracranial bleeding, cerebral infarcts, infections, and immunosuppressive drug toxicity (tacrolimus and cyclosporine) may be considered among these factors. As shown in our presented cases, most neurologic complications can be successfully treated by correcting the underlying factor.
Wilson disease is an inherited disorder that results in copper accumulation in the tissues with liver injury and failure. Orthotopic liver transplant is one of the treatments of choice for this ...disease. The aim of this study was to compare the neurological symptoms, before and after orthotopic livertransplant, of patients with liver cirrhosis due to Wilson disease, who represent a special group of patients with liver failure.
Between 2007 and 2020, there were 24 patients with Wilson disease resistant to medical treatment who underwent deceased donor orthotopic livertransplant and were followed up for 1 year, 5 years, and 10 years for evaluation with neurological scoring systems. Patients were also evaluated for postoperative complications and survival.
Of the 24 patients evaluated, there were 13 (54.2%) female patients and 11 (45.8%) male patients, and the mean age was 34 years (range, 14-57 years). One of the patients died from early postoperative sepsis. After orthotopic livertransplant, disease scores returned to normal in 16 patients and improved in the remaining patients. Before transplant, all patients required help in their daily activities. After transplant, there were significant improvements in some symptoms, and the patients became more independent in their daily lives.
Our study shows that orthotopic liver transplant provides significant improvement in neurological symptoms and quality of life in patients with Wilson disease.
Objective: A functional single nucleotide polymorphism, rs1611115, in the dopamine β-hydroxylase (DBH) gene, is reported to regulate plasma enzyme
activity levels. Here, we report the first ...evaluation of this association in patients with early-onset Parkinson’s disease (EOPD) and healthy controls in the Turkish
population.
Materials and Methods: We evaluated the DBH rs1611115 polymorphism in 114 (64 male and 50 female) Turkish patients with EOPD and 58 sex- and agematched healthy controls from the Turkish population. A total of 27.2% (n=31) of our patients who had any variation including pathogenic or non-pathogenic
missense, non-sense and/or intronic variation with unknown significance in EOPD genes were grouped as “variation-positive EOPD”. A total of 50.8% (n=58)
of our patients were grouped as “variation and family history-negative EOPD” and the possible contribution of the DBH rs1611115 polymorphism to EOPD
pathogenesis was evaluated in this group.
Results: There was no significant difference in the genotypic and allelic frequencies of DBH rs1611115 between patients with EOPD and controls. To our
knowledge, this is the first evaluation of the DBH rs1611115 polymorphism in patients with EOPD and ethnically matched controls in the Turkish population.
Conclusion: Some previous studies have reported conflicting association results between DBH rs1611115 polymorphism and PD pathogenesis in different
ethnic groups. Therefore, further studies are needed to evaluate dopamine metabolism-related genetic variants and to determine their possible roles in EOPD
susceptibility in the Turkish population.
Aim/Background: Restless legs syndrome (RLS) is a frequent neurological and sleep disorder. Metabolic disorders are known to be related to sleep disorders. We prospectively evaluated whether obesity ...and its possible cofactors were related to the presence of RLS.
Materials and Methods: The study included 143 obese and 94 non-obese individuals. Obese patients had a BMI of 30 and over, while non-obese patients had a BMI lower than 30. Patients with arthritis and pregnancy were excluded but not those with diabetes mellitus. Participants who met diagnostic criteria recommended by the International RLS Study Group were diagnosed as having RLS. Depression, anxiety, daytime sleepiness, insomnia and sleep quality were evaluated in detail.
Results: The mean age of obese patients was 40.52 years and that of non-obese patients was 39.76 years. The mean body mass index was 36.77 in the obese group and 25.71 in the non-obese group. The occurrence of depression, anxiety, sleep quality, and insomnia scores were significantly higher in obese individuals. The evaluations of daytime sleepiness, sleep efficiency and sleep latency were not significantly different between the groups.
Discussion: Although the presence of RLS was correlated with obesity and vascular risk factors at a significant level, it was also shown that depression, anxiety and insomnia were significantly frequent in obese patients (although not daytime sleepiness). Further studies are needed.
Encephalitis associated with leucine-rich glioma inactivated 1 (LGI1) antibodies is often encountered in elderly male patients and may infrequently present with isolated syndromes. A 6-year-old boy ...was admitted with acute onset severe oral and facial stereotypic and choreiform movements. On his neurologic examination, he had repetitive and rhythmic movements in orolingual muscles including tongue protrusion, limb chorea and minimal facial stereotypic movements. Anti-streptolysin O (ASO) titers were found severely elevated in several measurements. Well-characterized antibodies against ion channels and synapse proteins were negative whereas LGI1 antibody was positive in both serum and CSF. Marked clinical improvement was observed after immunotherapy. Here, we present the first pediatric case with LGI1 antibody associated hyperkinetic movement disorders and emphasize the importance of investigating neuronal autoantibodies in patients with isolated and treatment resistant movement disorders.
Abstract Hereditary chin tremor (HCT) is characterized by rhythmical, involuntary movements of the chin muscles usually inherited in an autosomal dominant pattern. We describe a 74-year old man with ...familial, childhood-onset chin tremor, and a 3-year history of progressive hand tremor, gait difficulty, and other parkinsonian features. Since chin tremor often occurs in Parkinson's disease (PD), a coexistent HCT may not be recognized unless past and family history of tremor is carefully explored.
Purpose
The aim of this study was to examine the structural-neurochemical abnormalities of the frontal white matter (FWM), deep gray matter nuclei, and pons in patients with Wilson’s disease (WD) ...using proton magnetic resonance spectroscopy (MRS) and diffusion-weighted imaging (DWI).
Materials and methods
Nine patients with WD and 14 age-matched controls were examined with MRS.
N
-Acetylaspartate (NAA), choline (Cho), and creatine (Cr) peaks were calculated. DWI scans from six WD patients and six controls were also obtained. The relative metabolite ratios and apparent diffusion coefficient (ADC) values of the WD patients were compared to those of the control subjects by using statistical measures.
Results
Measurements in the thalamus and pons showed significantly lower NAA/Cho and NAA/Cr ratios in the WD group than in the control group (
P
< 0.05). Thalamic and pontine Cho/Cr ratios in the patient group were significantly higher than those of the control group (
P
< 0.05). No statistically significant relation was found between the patient and control groups as a result of the MRS examinations of FWM and all ADC measurements (
P
> 0.05).
Conclusion
MRS is a noninvasive, valuable modality for detecting structural-neurochemical changes of the brain stem and deep gray matter in patients with WD. The contribution of DWI in these patients is limited.
Objective
In this study, quality of life and psychiatric comorbid disorders were investigated in patients with cervical dystonia and their spouses and we also investigated the effect of botulinum ...toxin (BTX) treatment on these parameters.
Material and method
Thirty patients with cervical dystonia (CD) on BTX treatment and their spouses (
n
= 30) were included. Beck Depression Scale (BDS), State-Trait Anxiety Inventory I and II (STAI-I, STAI-II), Hospital Anxiety Scale (HAS), Hospital Depression Scale (HDS) for psychiatric comorbid disease assessment, Toronto Western Spasmodic Torticollis Scale (TWSTRS) for disease activity assessment, and Craniocervical Dystonia Questionnaire (CDQ-24), Cervical Dystonia Impact Profile (CDIP-58), and Short Form 36 (SF-36) questionnaires for quality of life assessment were used. BDS, STAI-I and STAI-II, HAS, HDS, and SF-36 scales were also obtained from the spouses. The same tests were applied both before and 8 weeks after the BTX treatment.
Conclusion
In our study, an increase in psychiatric comorbid disorders such as depression and anxiety was observed and the quality of life was adversely affected in all areas in patients. In the spouses of the patients, the rates of psychiatric comorbid disorders such as depression and anxiety were found to be increased when compared to healthy subjects while vitality, mental health, and general health perception were found to be negatively affected.
Patients showed improvements in anxiety level, disease activity, and overall quality of life scales after BTX treatment.
Stiff person syndrome (SPS) is a disease characterized by rigidity in the extremities, axial muscles, and abdominal muscles, severe and painful spasms, and accompanying gait disturbances. Stiff ...person syndrome is most common in adults between the ages of 20 to 50 and in female sex. The most frequently reported antibody in patients with SPS is antibodies developed against glutamic acid decarboxylase enzyme. In this article, two SPS cases from different age groups who presented with gait disturbance and painful spasms and were found to have glutamic acid decarboxylase antibody positivity were reported with clinical and electrophysiological findings in the light of the literature. As in our cases, SPS should be considered in the differential diagnosis of patients of all age presenting with muscle stiffness and spasms, specifically those that increase with stimulus.
Stiff person syndrome (SPS) is a disease characterized by rigidity in the extremities, axial muscles, and abdominal muscles, severe and painful spasms, and accompanying gait disturbances. Stiff ...person syndrome is most common in adults between the ages of 20 to 50 and in female sex. The most frequently reported antibody in patients with SPS is antibodies developed against glutamic acid decarboxylase enzyme. In this article, two SPS cases from different age groups who presented with gait disturbance and painful spasms and were found to have glutamic acid decarboxylase antibody positivity were reported with clinical and electrophysiological findings in the light of the literature. As in our cases, SPS should be considered in the differential diagnosis of patients of all age presenting with muscle stiffness and spasms, specifically those that increase with stimulus. Keywords: Electrophysiological findings, glutamic acid decarboxylase, stiff person syndrome. Stiff person syndrome (SPS) is a disease characterized by rigidity in the extremities, axial muscles, and abdominal muscles, severe and painful spasms, and accompanying gait disturbances. This rare disease has an incidence of 1/1,000,000 and an estimated prevalence of 1-2/1,000,000.1 Stiff person syndrome is two to three times more common in females. Although it is most frequently observed in adults between the ages of 20 to 50, it has also been reported in children and adolescents in the literature.1,2 Stiff person sendromu (SPS) ekstremite, aksiyel ve abdominal kaslarda rijidite, siddetli ve agrili spazmlar ve yürüyüs bozuklugunun eslik ettigi bir hastaliktir. Stiff person sendromu, en sik eriskinlerde, 20-50 yas arasinda ve kadin cinsiyette görülmektedir. Stiff person sendromu saptanan hastalarda en sik bildirilen antikor glutamik asit dekarboksilaz enzimine karsi gelisen antikorlardir. Bu makalede yürüyüs bozuklugu, agrili spazmlar ile basvuran ve glutamik asit dekarboksilaz antikor pozitifligi saptanan farkli yas gruplarindan iki SPS olgusu klinik ve elektrofizyolojik bulgular literatür esliginde sunuldu. Olgularimizda oldugu gibi kaslarda sertlik ve özellikle uyaranla artan spazmlar ile gelen her yas grubundan hastanin tanisinda mutlaka SPS düsünülmelidir. Anahtar sözcükler: Elektrofizyolojik bulgular, glutamik asit dekarboksilaz, stiff person sendromu.
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