Wilson’s Disease

Wilson’s disease is a autosomal recessive disorder of copper metabolism. Clinical phenotypes include hepatic, haemolytic, neurologic and psychiatric diseases. Wilson’s disease is caused by mutations in the ATP7B gene. ATP7B encodes a hepatic copper-transporting protein, which is important for copper excretion into bile. Neurological symptoms in Wilson’s disease include variable combinations of dysathria, ataxia, parkinsonism, dystonia and tremor. Wilson’s disease is lethal if untreated. This review discusses the epidemiology, genetics, clinical features, etiopathophysiology, diagnostic tests, and treatment of Wilson’s diseas

Unilateral ablative lesions of the subthalamic nucleus in moderate-to-advanced parkinson’s disease

Amaç: Orta-ileri evre Parkinson hastalığı (PH) tedavisinde, subtalamik nükleusa (STN) yönelik derin beyin stimülasyonu (DBS) ameliyatlarının tüm parkinsonyan motor semptomlara ve motor komplikasyonlara karşı yarar sağladığı bilinmektedir. Bu çalışmada unilateral STN lezyonlarının orta-ileri PH’daki etkileri araştı rılmıştır. Yöntemler: Orta-ileri evre PH olan 11 hasta (8 erkek, 3 kad›n) çalışmaya alındı. Cerrahi öncesinde hastaların tamamında motor komplikasyonlardan biri veya birkaçı (doz sonu kötüleşmesi, “açık-kapalı” dönemler, diskinezi) vardı. Hastaların tamamı “kapalı” dönemlerinde Hoehn-Yahr ölçeğine göre 3 veya 4 evresindeydiler ve Birleşik Parkinson Hastalığı Değerlendirme Ölçeği (BPHDÖ)’ne göre değerlendirildiler. Hastaların izlenme süreleri 12 ile 20 ay (ortalama: 14±2.94) arasında değişiyordu. Subtalamik nükleusun saptanmasında bilgisayarlı tomografi ve manyetik rezonans incelemeleri kullanıldı. Subtalamik nükleus lezyonları tek taraflı olarak termokoagülasyon kullanılarak yapıldı. Bulgular: Subtalamotomi kontralateral, ipsilateral ve aksiyel motor bulgularda belirgin düzelme sağladı. Ortalama “açık” dönemdeki toplam BPHDÖ skoru 61.7±19.2’den 31.6±15.7’ye (p=0.001) ve BPHDÖ motor bölüm skoru 26.1±11.1’den 15±11.1’e (p=0.02) düştü. Toplam "açık" zamanı 8 hastada %50 oranında arttı, ancak diğer 3 hastada belirgin değişiklik olmadı. Maluliyet verici diskinezileri olan 9 hastanın 6’sında belirgin iyileşme hali görüldü (BPHDÖ-bölüm IV ortalama %40). Cerrahi öncesi ve sonrası levodopa-eşdeğer dozları karşılaştırıldığında 8 hastanınki azaldı, 1 hastanın arttı ve geri kalan 2’sinde değişmedi. Onbir hastanın sadece 1’inde hemiballismus gelişti. Hemiballistik hareketler ablasyondan hemen sonra ortaya çıktı ve tedavi ile iki hafta içinde tamamen düzeldi.Sonuç: Sonuç olarak subtalamotomi orta-ileri PH’da güvenilir ve etkili bir yöntemdir.Derin beyin stimülasyonunun mümkün olmadığı vakalarda subtalamatomi alternatif bir yöntem olarak düşünülebilir.Objective: Deep brain stimulation (DBS) of the subthalamic nucleus (STN) has been reported to be effective in alleviating all parkinsonian motor symptoms and motor complications in moderate-to-advanced Parkinson’s disease (PD). We have studied the effects of unilateral STN lesions on moderate-to-advanced PD. Methods: Eleven patients (eight male, three female) with moderate-to-advanced PD were studied. Before surgery, all patients suffered from one or more motor complications (wearing-off and on-off phenomena, dyskinesias). All patients had Hoehn and Yahr stage 3 or 4 in off-drug condition and were evaluated with the Unified Parkinson's Disease Rating Scale (UPDRS). The follow-up time ranged between 12 and 20 months (mean: 14±2.94 months). STN was identified through CT and MRI scans. STN lesions were performed unilaterally using thermocoagulation. Results: Subthalamotomy induced a marked motor improvement contralaterally, ipsilaterally and axially. Mean “on” time total UPDRS and motor scores decreased from 61.7±19.2 to 31.6±15.7 (p=0.001) and from 26.1±11.1 to 15±11.1 (p=0.02), respectively. Total ‘on’ time period increased by 50% in eight patients but did not change in the remaining three. Nine patients had disabling dyskinesia and six of these patients improved significantly (mean 40%, UPDRS part IV). Compared to presurgical doses, the levodopa-equivalent dose was reduced in eight patients,increased in one and left unchanged in the remaining two patients during the postoperative phase. Notably, only one out of eleven patients developed hemiballismus. Hemiballistic movements emerged immediately after the ablation and were ameliorated under treatment within two weeks after surgery.Conclusion: We conclude that subthalamotomy is a safe and effective treatment for moderate-to-advanced PD. In cases in which DBS is not feasible, subthalamotomy may be considered as an alternative procedure

Efficacy of Botulinum Toxin Injections in the Treatment of Various Types of Facial Region Disorders

OBJECTIVE: Local injection of botulinum toxin is a highly effective treatment option for a wide range of movement disorders and there are reliable sources of information on its indications, effects and safety in clinical practice. In this study, we report our experience with botulinum toxin in the treatment of facial region disorders. METHODS: Patients who had been followed in the Botulinum Toxin Outpatient Clinic of the Neurology Department were retrospectively evaluated. Two preparations of botulinum toxin type A (BT-A) were used. The efficacy of BT-A injections was rated according to the improvement in symptoms as follows: marked - 75-100% improvement, good - 50-74%, moderate - 25-49%, and insufficient - less than 25% symptom relief. RESULTS: One hundred eighty-two patients (73 male, 109 female) with various facial region disorders were included. The efficacy rates for patients who had very good and good improvement were high in the treatment of blepharospasm, hemifacial spasm, facial synkinesis, and Meige syndrome and moderate for oromandibular dystonia and hypersalivation. Ptosis was the most common side effect. CONCLUSION: According to our results, botulinum toxin was very effective treatment for blepharospasm, Meige syndrome, hemifacial spasm and facial synkinesis, whereas it demonstrated good efficacy in oromandibular dystonia and hypersalivatio

Multiple System Atrophy (MSA-C) Presenting with Cognitive Affective Cerebellar Syndrome and Psychosis

Besides its well-established motor functions, the modulatory role of cerebellum in the neural networks subserving cognition and emotion has been supported by several lines of evidence obtained from neuroanatomical investigations, functional neuroimaging and clinical research. Damage to cerebellar posterior lobe and vermis may lead to a cognitive affective cerebellar syndrome primarily comprising cognitive disorders characterized by executive dysfunctioning, language and visuospatial impairments in addition to disorders of affect and other psychiatric impairments. Cognitive and affective symptoms have often been reported in neurodegenerative cerebellar diseases while psychotic symptoms occur less frequently. In this article, we describe an extraordinary case of multiple system atrophy (MSA-C), who presented with cognitive affective cerebellar syndrome and psychotic symptoms before cerebellar ataxia was evident. The wide variety of symptoms observed in this case underlines the critical role of cerebellum in modulation of networks engaged in cognition, affect, thought and perception, and provides further evidence regarding the contribution of cerebellar dysfunction to several neuropsychiatric symptom

Treatment of bilateral Parkinson's tremor with bilateral small thalamotomy

Amaç: Medikal tedaviye dirençli Parkinson hastalığındaki tremorun tedavisinde talamotomi etkin bir tedavi yöntemidir. Ancak bilateral talamotomi operasyonunun başta dizartri olmak üzere bazı komplikasyonlara yol açtığı bilinmektedir. Bu bilgi eskiden yapılan bilateral büyük talamotomi ameliyatlarından gelmektedir. Bu çalışmada ise bilateral küçük talamotomi uygulanması sonrası görülen komplikasyonlar ve elde edilen sonuçlar araştırırıldı. Hastalar ve Yötem: Uygun dozlardaki medikal tedaviye rağmen günlük yaşam aktivitelerini kısıtlayıcı Parkinson tremoru olan 9 hastaya (6 erkek, 3 kadın) mevcut literatürde belirtilenin aksine, olası komplikasyonlardan kaçınmak için stereotaksi yöntemiyle ventralis intermedius (VİM) nükleusa bilateral küçük talamotomi yapıldı. Bulgular: Cerrahi sonrası hastaların beşinde tremor iki yanlı tamamen ortadan kalktı. Üç hastada bir beden yarısında belirgin, karşı beden yarısında kısmi yararlanma görüldü. Bir hastada bir beden yarısında belirgin düzelme görülürken karşı beden yarısındaki yakınmalarında değişiklik olmadı. Ortalama Birleşik Parkinson Hastalığı Değerlendirme Ölçeği tremor skoru (madde 20,21) 6,8±0,9'dan 1,1±1'e (p<0,0001) geriledi. Bilateral küçük talamotomi yapılan 5 olguda dizartri (3 olgu çok hafif, 2 olgu ciddi), 2 olguda geçici somnolans, bir olguda hafif yutma güçlüğü, bir olguda yürüme güçlüğü komplikasyonlarından biri veya birkaçı birlikte gelişti. Sonuç: Çalışmamıza göre medikal tedaviye dirençli Parkinson tremorunun tedavisinde küçük VİM talamotomi etkin yarar sağlamaktadır. Ancak komplikasyon oranı küçük lezyonlara rağmen yüksek olduğundan seçilmiş vakalara dikkatle uygulanmalıdır.Purpose: Thalamotomy is an effective treatment method for medically intractable Parkinson's tremor. However, it is known that bilateral thalamotomy operation can cause some complications and mainly dysarthria. This information is derived from bilateral &quot;large&quot; thalamotomy operations performed in the earlier years. The goal of our study was to investigate the outome of bilateral small thalamotomy in the treatment of Parkinson's disease. Material and methods:In this study, 9 patients (6 males, 3 females) diagnosed as having Idiopathic Parkinson's Disease (IPD) who despite appropriate medical therapy, had parkinsonian tremor, which significantly restricted their quality of life, were included. Bilateral ventralis intermedius (VIM) nuclei of thalamus were ablated stereotactically with small lesions contrary to the technique reported in literature to avoid possible complications. Results: Postoperatively, five patients were free of bilateral tremor, in three patients the operation was very successful on one side and moderately successful on the other side. One patient improved on one side, however tremor did not improve on the other side. Mean Unified Parkinson's Disease Scale (UPDRS) tremor scores (subscores 20,21) decreased from 6,8&plusmn;0,9 to 1,1&plusmn;1 (p&lt;0,0001) respectively. One or more complications such as dysarthria were encountered in five patients (two of them being more serious) reversible somnolence was seen in two patients, dysphagia in one patient. Walking problems were present in one patient. Conclusion: In our study we have found that small VIM thalamotomy is an effective treatment modality in medically intractable IPD. The complication rates are still high although the lesions are smaller. This procedure should only be carefully performed in selected cases

The Association Between Clusterin and APOE Polymorphisms and Late-Onset Alzheimer Disease in a Turkish Cohort

Previous studies have demonstrated that clusterin (CLU), which is also known as apolipoprotein J, is involved in the pathogenesis of Alzheimer disease (AD). In this study, we investigated the association between rs2279590, rs11136000, and rs9331888 single-nucleotide polymorphisms (SNPs) in CLU and apolipoprotein E (APOE) genotypes in a cohort of Turkish patients with late-onset AD (LOAD). There were 183 patients with LOAD and 154 healthy controls included in the study. The CLU and APOE polymorphisms were genotyped using the LightSNiP assay. The GG genotype of rs9331888 was significantly more frequent in patients with LOAD. The CC genotype of the SNP was significantly more frequent in controls. The rs9331888 GG genotype in patients and the CC genotype in controls were significantly higher in non-4 allele carriers of APOE. The haplotype analysis showed the CLU GCG haplotype was a risk haplotype. Our findings indicate the rs9331888 SNP of CLU is associated with LOAD independent of APOE