A previously well 34-year-old man presented with severe pseudotumour cerebri. Imaging showed that he had a cauda equina tumour which proved to be a medulloblastoma. There was no tumour mass in the ...posterior fossa so we assume that this was a primary leptomeningeal medulloblastoma. In patients with somewhat atypical pseudotumour, spinal imaging should always be considered.
The aim of the this study was to examine the effects of supervised exercises on measures of static and dynamic balance Parkinson's disease (PD) patients.
The study used a before-after study design. ...Seventeen PD patients with mild and moderate levels of disability were enrolled in the study. Patients followed an exercise program under a physiotherapist's supervision one day a week for 12 weeks. The standard Balance Master protocol was used before and after exercise to assess static and dynamic balance.
A statistically significant difference was observed in the unilateral balance test, one of the static balance assessments performed while standing on the left or right leg with eyes closed (p < 0.05). With respect to dynamic balance, a statistically significant difference in the maximum excursion of limits of stability (LOS), one of the balance tests used in the supervised exercise programs for patient with Parkinson's disease, between measurements taken before and after exercises was also detected (p < 0.05).
The change of LOS revealed that dynamic balance improved due to the exercises. Thus, our supervised exercise program provided improvement in dynamic balance of PD patients.
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.
Botulinum toxin (BTX) injections are accepted as safe and efficacious in the treatment of hemifacial spasm (HFS), but it is still debated whether BTX treatment of lower facial muscles should be ...performed or not.
The study aims to evaluate the necessity of BTX administration into lower facial muscles in patients with HFS.
A randomized, single-blind, crossover, clinical trial was conducted. Twenty-three HFS patients were randomly allocated to two different application methods. The patients were administered BTX type A into both the orbicularis oculi and perioral muscles in the first method and BTX type A into the orbicularis oculi but placebo into the perioral muscles in the second method. Subjects were crossed over to the alternate method when they needed BTX injection with a minimum of 3 months' duration. All the patients underwent both methods with no change in the total dose of BTX.
All the patients benefited from BTX treatment regardless of the methods. However, in the patients with severe lower facial muscle involvement, the application of BTX into both orbicularis oculi and lower facial muscles led to better results.
Our data suggest that BTX application to lower facial muscles might not be necessary in patients with mild lower facial involvement.
•A national registry for screening LOPD can also serve to give a grounding in the examination of muscle diseases.•AAG levels by dried blood spot (DBS) even from two different laboratories in the same ...patient may not prove LOPD.•LOPD seemed to be rarer in Turkey than in Europe.
The aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a collaborative study of neurologists working throughout Turkey.
Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic tests for myopathies other than LOPD. Acid alpha glucosidase (GAA) in dried blood spot was measured in each patient at two different university laboratories. LOPD was confirmed by mutation analysis in patients with decreased GAA levels from either both or one of the laboratories. Pre-diagnostic data, recorded by 45 investigators from 32 centers on 350 patients revealed low GAA levels in a total of 21 patients; from both laboratories in 6 and from either one of the laboratories in 15. Among them, genetic testing proved LOPD in 3 of 6 patients and 1 of 15 patients with decreased GAA levels from both or one of the laboratories respectively. Registry was transferred to Turkish Neurological Association after completion of the study for possible future use and development. Our collaborative study enabled collection of a considerable amount of data on the registry in a short time. GAA levels by dried blood spot even from two different laboratories in the same patient may not prove LOPD. LOPD seemed to be rarer in Turkey than in Europe.
Objectives: The aim of our study was to investigate the effects of home-based deep breathing exercises (DBEs) on pulmonary functions and fatigue in patients with mild and moderate stages of ...Parkinson's disease (PD). Method: This study included 24 patients diagnosed with idiopathic PD in the Neurology Department at Dokuz Eylul University Hospital. The subjects were assigned to 15 repetitive DBEs 3 times a day for 12 weeks. The patients' pulmonary function test results and fatigues were evaluated before and after a 12-week DBE program. Results: After a 12-week BDE program, an increase was determined in the forced expiratory volume in 1 second (FEV1), forced vital capacity (FVC), peak expiratory flow (PEF) and maximum voluntary ventilation (MVV) (p<0.05). There was a decrease in the patients' fatigue levels after the breathing exercises (p<0.05). Discussion: Home-based DBEs improved pulmonary function test results and fatigue in patients with mild to moderate PD. Therefore, we consider that DBEs which can be easily performed in any environment and do not require any equipment should be recommended to all patients with PD to improve respiratory functions and fatigue. Archives of Neuropsychiitry 2012;49:59-62) Key words: Parkinson's disease, pulmonary function test, deep breathing exercise, fatigue Amac: Bizim calismamizin amaci, hafif ve orta evredeki Parkinson hastalarinda evde yapilan solunum egzersizlerinin pulmoner fonksiyonlar ve yorgunluk uzerindeki etkilerini arastirmaktir. Yontemler: Bu calismaya Dokuz Eylul Universite Hastanesi Noroloji Bolumunde idyopatik Parkinson hastaligi tanisi konan 24 hasta alinmistir. Hastalar derin solunum egzersizlerini gunde 3 defa 12 hafta suresince 15 tekrarli olarak uygulamislardir. Hastalarin pulmoner fonksiyon test sonuclari ve yorgunluk duzeyleri 12 haftalik derin solunum egzersiz programi oncesi ve sonrasi degerlendirilmistir. Bulgular: 1. saniye zorlu expiratuvarvolum (FEV1), zorlu vital kapasite (FVC), pik ekspiratuvar akis (PEF) ve maksimum istemli ventilasyon degerlerinde 12 haftalik derin solunum egzersiz programi sonrasi artis oldugu belirlenmistir (MVV) (p<0,05). Derin solunum egzersiz programi sonrasi hastalarin yorgunluk duzeyi azalmistir (p<0,05). Sonuc: Hafifve orta evredeki Parkinson hastalarinda evde yapilan solunum egzersizleri pulmoner fonksiyon test sonuclarini ve yorgunluk duzeylerini iyilestirmistir. Bu nedenle biz, alet gerektirmeyen ve herhangi bir ortamda kolay bir sekilde uygulanabilen derin solunum egzersizlerinin solunum fonksiyonlarinin ve yorgunlugun iyilestirilmesi icin tum Parkinson hastalarina onerilmesi gerektigini dusunmekteyiz. Noropsikiyitri Arsivi 2012;49:59-62) Anahtar kelimeler: Parkinson hastaligi, pulmoner fonksiyon testleri, derin solunum egzersizleri, yorgunluk
Objective: The aim of our study is to investigate the effects of home exercise program on balance, postural control, coordination and functional strengthening in parkinsonian patients. Methods: The ...study was consisted of idiopathic Parkinson's disease patients, who were not given any exercise training previously. The program including stretching, strengthening, coordination and balance exercises was structured according to the severity of disease. The patients were taught the exercises by a physiotherapist and in addition, were given an illustrated annotated leaflet for home program. Patients were asked to perform the exercises 2 times a day, with 10 times repetitions, for 12 weeks. The static and dynamic balance capacities (Berg Balance Scale-BBS, functional reach test), timed performance capacity (timed up&go test, sit to stand test) of the patients were evaluated before the exercise training. The stage of the disease was evaluated using Modified Hoehn-Yahr Parkinson's Disease Staging, also the severity of the disease was assessed using the United Parkinson's Disease Rating Scale (UPDRS) motor score and the activities of daily living were measured using the Schwab and England Activities of Daily Living Scale. All assessments were repeated following the 12-week exercise program. Results: The mean age of the parkinsonian patients, who completed the exercise program, was 68.34 + or - 8.92 year (51-88) and the mean duration of disease was 4.94 + or - 4.25 (1-20) year. A significant increase in the scores of BBS, functional reach test (both forward and backward), and a significant decrease in the score of single timed chair-rise test were observed following the home exercise program. A significant improvement was observed in the scores of the Schwab England Activities of Daily Living Scale (p<0.05). Conclusion: Home exercises enhance the balance abilities and provide improvement on activities of daily living of Parkinson's disease patients. Therefore, besides the medical treatment, exercise programs should be included in the treatment of Parkinson's patients. (Archives of Neuropsychiatry 2010; 47:53-7) Key words: Parkinson's disease, exercise, physiotherapy Amac: Calismamizin amaci Parkinson hastalarinda ev programi olarak verilen denge, postural kontrol, koordinasyon ve kuvvetlendirmeye yonelik egzersiz programinin hastalarin denge yetenekleri ve fonksiyonel kapasiteleri uzerine olan etkilerini incelemektir. Yontemler: Calismaya daha once egzersiz egitimi verilmemis idyopatik Parkinson hastalari alindi. Egzersiz programi, hastaligin siddetine uygun olarak secilmis germe, kuvvetlendirme, koordinasyon ve denge egzersizlerini icermekteydi. Egzersizler fizyoterapist tarafindan hastalara ogretildi ve ayrica resimli ve aciklamali olarak ev programi seklinde verildi. Hastalardan egzersizleri gunde 2 kez, 10 tekrarli olarak ve 12 hafta boyunca yapmalari istendi. Hastalarin egzersiz egitimi oncesi statik-dinamik dengeleri (Berg Denge Olcegi, Fonksiyonel uzanma testi) ve sureli yurume, sandalyeye oturma, oturmadan ayaga kalkma aktivitele-riyle sureli performanslari degerlendirildi. Hastalik evresi modifiye Hoehn-Yahr evrelemesi, hastalik siddeti Birlesik Parkinson Hastaligi Degerlendirme Olcegi (BPHDO) motor skoru, gunluk yasam aktiviteleri Schwab England Gunluk Yasam Etkinlikleri Olcegi ile degerlendirildi. Tum degerlendirmeler 12 haftalik egzersiz programindan sonra tekrarlandi. Bulgular: Egzersiz programini tamamlayan 29 Parkinson hastasinin yas ortalamasi 68.34 + or - 8.92 yil (51-88) ve hastalik baslangic suresi 4.94 + or - 4.25 (1-20) yil idi. Hastalarin ev egzersiz programi sonrasinda Berg Denge Olcegi (BDO) skorlarinda, one ve arkaya fonksiyonel uzanma testinde anlamli artis ve sureli performans testlerinden olan sandalyeden bir kez ayaga kalkma testinde anlamli azalma saptandi. Schwab England Gunluk Yasam Aktiviteleri Olcegi skorlarinda anlamli duzelme gozlendi (p<0.05). Sonuc: Parkinson hastaliginda ev egzersizleri hastalarin denge yeteneklerini duzeltmekte ve gunluk yasam aktivitelerinde iyilesme saglamaktadir. Bu nedenle Parkinson hastalarinin tedavisinde medikal tedavilerin yani sira egzersiz programlari da mutlaka yer almalidir. (Noropsikiyatri Arsivi2010; 47:53-7) Anahtar kelimeler: Parkinson hastaligi, egzersiz, fizyoterapi
Objective: Posterior cortical atrophy (PCA) is a rare dementia syndrome that presents primarily with signs of cortical visual dysfunction. The main clinical features of the disease include Balint's ...syndrome, Gerstmann's syndrome, visual agnosia, alexia, agraphia, and transcortical sensory aphasia. In this study, we aimed to determine the clinical characteristics and the brain single proton emission computed tomography (SPECT) findings of patients clinically diagnosed as having PCA. Methods: The subjects followed in the dementia outpatient clinic of neurology department, Dokuz Eylul University Hospital, suspected to have PCA and who have undergone cognitive testing and brain SPECT inspection were included in the study. Records of a total of 1105 subjects were screened and among them, nine patients who were clinically thought to have PCA were reached. Results: The presenile age onset, more prominent loss of visuospatial abilities than amnestic feature, early detection of visual agnosia, comorbidity of depression and apraxia in early term, fluent speech are among the symptoms that preoccupy PCA. Brain SPECT is a useful examination method in patients suspected to have PCA. Patients with hypoperfusion in the posterior brain regions also must be taken into account in terms of recognizing clinical features of PCA. Conclusion: The mean age of the subjects was 59.11+ or -4.1 years, onset of the disease was 55.83+ or -4.97 years and all patients were female. Eight cases had Gerstmann's syndrome with all components, whereas in seven of them simultanagnosia was established. They had severe visual memory defect, which was more prominent than verbal memory defect. Visual-spatial functions were extremely deteriorated in all patients. Figure copying was severely worsened in all patients. Clock drawing was either not accomplished or was severely bad. Eight patients had ideomotor apraxia. Speech was fluent in all patients. Eight patients had depression that simultaneously developed with the onset of the complaints. Brain SPECT revealed either unilateral or bilateral hypoperfusion in the posterior temporal, parietal or occipital lobes. (Archives of Neuropsychiatry 2010; 47: 201-6) Key words: Dementia, posterior cortical atrophy, brain SPECT, simultanagnosia, Gerstmann Amac: Posterior kortikal atrofi, kortikal vizuel disfonksiyon bulgulari ile baslayan ve nadir gorulen bir demans sendromudur. Hastaligin ana klinik gorunumu Balint sendromu, Gerstmann sendromu, vizuel agnozi, aleksi, agrafi ve transkortikal sensoriyel afaziyi icerir. Biz bu calismada PKA on tanili hastalarimizin klinik ozelliklerini ve beyin SPECT bulgularini belirlemeyi amaCladik. Yontemler: Calismaya DEUTF Noroloji Anabilim Dali Demans polikliniginde izlenen, klinik olarak PKA dusunulen, ayrintili kognitif testleri yapilan ve ayni zamanda beyin SPECT incelemesi yapilmis olan olgular alindi. Toplam 1105 olgunun dosyasi tarandi ve bunlarin arasindan klinik olarak PKA dusunulen 9 olguya ulasildi. Bulgular: Presenil yaslarda baslangic, gorsel uzamsal yeteneklerdeki kayiplarin amnestik tablodan daha belirgin olmasi, vizuel agnozinin erken donemde saptanmasi, depresyonun, erken donemde apraksinin eslik etmesi, konusma akiciliginin iyi olmasi PKA'yi dusundurecek ozellikler arasindadir. Beyin SPECT incelemesi de PKA tanisi dusunulen hastalarda oldukca yararli bir inceleme yontemidir. Posterior beyin bolgelerinde hipoperfuzyon saptanan hastalar, PKA acisindan degerlendirilmelidir. SonuC: Olgularin yas ortalamasi 59.11+ or -4.1 yil, hastaligin baslangic yasi 55.83+ or -4.97 yildi ve tumu kadindi. 8 olguda tum bilesenleriyle Gerstmann sendromu varken, 7 olguda simultanagnozi saptandi. Olgularin tamaminda sozel belleklerindeki bozulmadan daha belirgin olan agir gorsel bellek bozuklugu vardi. Tum olgularda gorsel mekansal islevler ileri derecede bozulmustu. Sekil kopyalama olgularin tumunde ileri derecede bozulmustu. Saat Cizimi ya tamamlanamadi ya da ileri duzeyde bozuktu. Sekiz hastanin ideomotor apraksisi vardi. Konusma tum olgularda akiciydi, 8 olguda yakinmalarin baslangici ile es zamanli olarak depresyon saptandi. Beyin SPECT incelemesinde posterior temporal, paryetal ya da oksipital loblarda hipoperfuzyon izlendi. Perfuzyon bozuklugu 6 olguda asimetrikti. (Noropsikiyatri Arsivi 2010; 47: 201-6) Anahtar kelimeler: Demans, Posterior Kortikal Atrofi, beyin SPECT, simultanagnozi, Gerstmann
Amaç: Çalışmamızın amacı Parkinson hastalarında ev programı olarak verilen denge, postural kontrol, koordinasyon ve kuvvetlendirmeye yönelik egzersiz programının hastaların denge yetenekleri ve ...fonksiyonel kapasiteleri üzerine olan etkilerini incelemektir.
Yöntemler: Çalışmaya daha önce egzersiz eğitimi verilmemiş idyopatik Parkinson hastaları alındı. Egzersiz programı, hastalığın şiddetine uygun olarak seçilmiş germe, kuvvetlendirme, koordinasyon ve denge egzersizlerini içermekteydi. Egzersizler fizyoterapist tarafından hastalara öğretildi ve ayrıca resimli ve açıklamalı olarak ev programı şeklinde verildi. Hastalardan egzersizleri günde 2 kez, 10 tekrarlı olarak ve 12 hafta boyunca yapmaları istendi. Hastaların egzersiz eğitimi öncesi statik-dinamik dengeleri (Berg Denge Ölçeği, Fonksiyonel uzanma testi) ve süreli yürüme, sandalyeye oturma, oturmadan ayağa kalkma aktiviteleriyle süreli performansları değerlendirildi. Hastalık evresi modifiye Hoehn-Yahr evrelemesi, hastalık şiddeti Birleşik Parkinson Hastalığı Değerlendirme Ölçeği (BPHDÖ) motor skoru, günlük yaşam aktiviteleri Schwab England Günlük Yaşam Etkinlikleri Ölçeği ile değerlendirildi. Tüm değerlendirmeler 12 haftalık egzersiz programından sonra tekrarlandı.
Bulgular: Egzersiz programını tamamlayan 29 Parkinson hastasının yaş ortalaması 68.34±8.92 yıl (51-88) ve hastalık başlangıç süresi 4.94±4.25 (1-20) yıl idi. Hastaların ev egzersiz programı sonrasında Berg Denge Ölçeği (BDÖ) skorlarında, öne ve arkaya fonksiyonel uzanma testinde anlamlı artış ve süreli performans testlerinden olan sandalyeden bir kez ayağa kalkma testinde anlamlı azalma saptandı. Schwab England Günlük Yaşam Aktiviteleri Ölçeği skorlarında anlamlı düzelme gözlendi (p<0.05).
Sonuç: Parkinson hastalığında ev egzersizleri hastaların denge yeteneklerini düzeltmekte ve günlük yaşam aktivitelerinde iyileşme sağlamaktadır. Bu nedenle Parkinson hastalarının tedavisinde medikal tedavilerin yanı sıra egzersiz programları da mutlaka yer almalıdır.
Objective: The aim of our study is to investigate the effects of home exercise program on balance, postural control, coordination and functional strengthening in parkinsonian patients.
Methods: The study was consisted of idiopathic Parkinson's disease patients, who were not given any exercise training previously. The program including stretching, strengthening, coordination and balance exercises was structured according to the severity of disease. The patients were taught the exercises by a physiotherapist and in addition, were given an illustrated annotated leaflet for home program. Patients were asked to perform the exercises 2 times a day, with 10 times repetitions, for 12 weeks. The static and dynamic balance capacities (Berg Balance Scale-BBS, functional reach test), timed performance capacity (timed up&go test, sit to stand test) of the patients were evaluated before the exercise training. The stage of the disease was evaluated using Modified Hoehn-Yahr Parkinson's Disease Staging, also the severity of the disease was assessed using the United Parkinson's Disease Rating Scale (UPDRS) motor score and the activities of daily living were measured using the Schwab and England Activities of Daily Living Scale. All assessments were repeated following the 12-week exercise program.
Results: The mean age of the parkinsonian patients, who completed the exercise program, was 68.34±8.92 year (51-88) and the mean duration of disease was 4.94±4.25 (1-20) year. A significant increase in the scores of BBS, functional reach test (both forward and backward), and a significant decrease in the score of single timed chair-rise test were observed following the home exercise program. A significant improvement was observed in the scores of the Schwab England Activities of Daily Living Scale (p<0.05).
Conclusion: Home exercises enhance the balance abilities and provide improvement on activities of daily living of Parkinson's disease patients. Therefore, besides the medical treatment, exercise programs should be included in the treatment of Parkinson's patients.