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Now showing 1 - 6 of 6
  • PublicationOpen Access
    Motor and Non-Motor Symptoms in Parkinson-s Disease: Effects on Quality of Life.
    Introduction: This study aimed to evaluate motor and non-motor symptoms in idiopathic Parkinson's disease (IPD) patients and to determine the self-reported influence of all existing symptoms on their quality of life (QoL). Methods: The sociodemographic and clinical characteristics, medical treatments, and Modified Hoehn and Yahr (mH&Y) scores of IPD patients without cognitive impairment were recorded. A survey questioning different motor and non-motor symptoms was administered to the patients. The patients were asked to rate their symptoms by number from the greatest influence to the least influence on their QoL. Subjects were divided into two groups: those suffering from IPD for ≤5 years (Group 1) and those suffering from IPD for >5 years (Group 2). These groups were compared in terms of sociodemographic and clinical characteristics, existing symptoms, and influences of these symptoms on their QoL. Results: There were 63 patients in Group 1 and 37 patients in Group 2. No statistically significant differences were detected between the groups with respect to sociodemographic characteristics or mH&Y scores. The most common motor symptoms in both of these groups were tremor and bradykinesia; meanwhile, the non-motor symptoms most frequently encountered in these groups were pain-cramps, constipation, and excessive daytime sleepiness (EDS). Again, while the symptoms that most greatly disturbed QoL in all patients were reported to be tremor and bradykinesia, the most disturbing non-motor symptom was frequent voiding/incontinence, which was a less common symptom. Pain-cramp, constipation, and EDS, which were the most frequent non-motor symptoms, were the symptoms that least disturbed QoL. Conclusion: It is widely accepted that motor symptoms determine QoL in IPD. However, non-motor symptoms are seen during all phases of the disease. The impact of non-motor symptoms on the QoL of IPD patients remains substantial. Therefore, in addition to the well-known motor symptoms, non-motor symptoms, which may be overlooked during physical examination yet may profoundly impact QoL, should be questioned and treated appropriately to improve QoL in PD patients as much as possible.
  • PublicationOpen Access
    Lambert-Eaton Myasthenic Syndrome with A Twenty-Three-Year Delay in Diagnosis
    (2017-06-01) Gokcal, ELİF; Gürsoy, AZİZE ESRA; Asil, TALİP; Ertas, Mustafa; GÖKÇAL, ELİF; GÜRSOY, AZIZE ESRA; ASİL, TALIP
    Lambert-Eaton myasthenic syndrome (LEMS) is a rare neuromuscular junction disorder resulting from the development of auto-antibodies against voltage-gated calcium channels (VGCCs) in pre-synaptic terminals (1). It has tumoral and non-tumoral forms; the former is associated with small cell lung cancer. Clinically, it is characterized by proximal weakness, autonomic symptoms, and loss/reduction of deep tendon reflexes (2). Muscular weakness, frequently occurring in the lower extremities, almost always begins symmetrically in the proximal muscles, progressing to involve the distal muscles over time (3). It may be confused with myopathic disorders due to the presence of symmetrical muscular weakness involving the proximal muscles. Herein we present the case of a non-tumoral LEMS patient who was diagnosed as having myopathy due to weakness that started in the legs nearly 23 years ago. Written consent was taken from the patient
  • PublicationOpen Access
    Multiple Spontaneous Intracranial-Extracranial Arterial Dissections in a Patient with Osteogenesis Imperfecta
    A 40-year-old male with osteogenesis imperfecta (OI) was admitted to the hospital with an acute right monoparesis. Diffusion-weighted MRI showed infarction in the territory of the left anterior cerebral artery (ACA) and in the left posterior cerebral artery (PCA). In his vascular imaging, occlusion of the left vertebral artery (VA) starting from V2 segment was consistent with dissection and pseudoaneurysm in the right ACA. We presented this case because of the presence of spontaneous and simultaneous occurrence of both intracranial and extracranial arterial dissections in OI.
  • PublicationOpen Access
    A CADASIL Case Presenting with Progressive Bulbar Palsy Caused by Acute Simultaneous Multiple Subcortical Infarcts
    (2019-04-01T00:00:00Z) GÖKÇAL, ELİF; KOLUKISA, MEHMET; Mustafayev, Nihat; ASİL, Talip; GÖKÇAL, ELİF; KOLUKISA, MEHMET; ASİL, TALIP
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an adult-onset inherited small vessel disease of the brain caused by NOTCH3 mutations. Clinical characteristics of CADASIL include recurrent infarctions, migraine with aura, mood disturbances and cognitive impairment. We report a 35 year-old migraine-free patient with unusual presentation with acute simultaneous multiple subcortical infarctions causing progressive bulbar palsy as the initial manifestation. Hepresented with slurred speech progressing to anarthria and bilateral palsy of lower motor cranial nerves within 24 hour. Initial acute subcortical infarcts enlarged and new infarcts developed in bilateral hemispheres. There was diffuse leukoencephalopathy involving temporal horns and the patient had positive familiy history of migraine and young stroke. CADASIL was diagnosed genetically when NOTCH3 mutationwas shown. The patient improved after treatment with liquid hydration and antiplatelet agent. We experienced with the patient that CADASIL may present with unusual progressive manifestations and bilateral simultaneous infarctions. Irrespective of clinical presentation, patients with leukoencephalopathy and positive familiy history should be tested for NOTCH3 mutation.
  • PublicationOpen Access
    Genotype-phenotype Correlation in Pelizaeus Merzbacher Disease and Pelizaeus Merzbacher-like Disease
    (2019-07-01T00:00:00Z) GÖKÇAL, ELİF; Bilir, Birdal; BATTALOĞLU, ESRA; Aydin, Resa; Yapici, Zuhal; GÖKÇAL, ELİF
    Objective: Among the hypomyelinating diseases of childhood, Pellizeus Merzhachcr disease (PMD) is caused by X-linked proteolipid protein (PLP) gene mutations, whereas patients without mutations of PLP gene-called Pelizaues Merzbacher-like disease (PMLD) have recessive gap junction protein alpha 12 (gap junction alpha-12/gap junction gamma-2) gene mutations. The aim of this study was to evaluate clinical severity and progression in time in patients with PMD and PMLD. Methods: The motor developmental stages of the patients were reviewed; disease severity was classified according to the walking ability they were able to achieve. Progression pattern was determined according to comparison of neurological findings at the time of the study and at follow-up visits. Patients with PMD and PMLD were compared in terms of disease severity and progression rates as well as patient groups with a unique causative mutation were analyzed individually. Results: There were 9 patients with PMD (mean age 15.2 +/- 3.1) and 11 patients with PMLD (mean age 1 2.4 +/- 1.9). The presence of severe disease was more common in patients with PMD when compared to PMLD. In X-linked PMD, missense mutations were associated with the most severe disease and rapid progression, while deletion mutations were associated with mild disease severity and slow progression. Disease severity and progression patterns seemed to he heterogenous in different causative mutations of PMLD. Conclusion: Although PMLD might have milder disease phenotype when compared to PMD, certain causative mutations in different genetic traits may cause different disease severity and progression patterns.
  • PublicationOpen Access
    Treatment of Motor Symptoms in Idiopathic Parkinson-s Disease
    Idiopathic Parkinson-s disease is one of the most common neurodegenerative disorders. Idiopathic Parkinson-s disease continues to be a progressive disorder leading to severe disability caused by motor and non-motor symptoms. To date, there have been no disease-modifying or neuroprotective interventions that could stop or slow down disease progression. Treatment of motor symptoms, such as tremor, rigidity, and bradykinesia, is primarily focused on correcting dopamine deficiency. There are some medications that do not directly affect the dopaminergic system. Some invasive interventions are also available. Treatment options should be specified according to age, disease stage, functional status, and concurrent diseases of the patients. Non-motor symptoms, such as sleep disturbances and neuropsychiatric symptoms, should also be properly diagnosed and treated. This review focuses on treatment strategies for the motor symptoms of idiopathic Parkinson-s disease.