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BACKGROUND: Postural disorders are frequently observed in Parkinson’s disease (PD). The underlying mechanisms that cause postural disorders are not fully understood and the majority of these disorders have no response to antiparkinsonian treatments. These disabling conditions require further investigation to better understand the underlying mechanisms in order to develop effective treatments. OBJECTIVE: The aim of this study was to investigate the frequency of axial postural disorders in PD and to determine the associated clinical risk factors. METHODS: In this single-center clinical trial, the data of PD patients were reviewed retrospectively. The frequencies of postural disorders were determined, and the demographic clinical characteristics of the patients were compared. RESULTS: The records of 127 patients with idiopathic PD were analyzed. Axial posture disorders were found in 42.6% of patients. Patients with axial posture disorders were older when the disease onset was detected, amongst these patients the condition was also longer lasting. The mean levodopa dose was higher in the patients with posture disorders. The initial symptom was bradykinesia and the Hoehn and Yahr’s score was ⩾ 3 in the majority of the patients with posture disorder. Additionally, constipation, hallucinations, postural instability, and falls were significantly more common in patients with posture disorders. CONCLUSION: Posture disorders were observed in nearly half of PD patients and were more frequently observed in patients with an advanced condition. In addition, our investigation has found that it is crucial to follow up with patients who present with bradykinesia for the development of postural disorder.

Multiple system atrophy (MSA) is a late-onset, sporadic, progressive, neurodegenerative disorder clinically characterized by autonomic failure and either poorly levodopa-responsive parkinsonism or cerebellar ataxia. There isn’t any effective treatment on disease progression. Current therapeutic strategies are primarily based on dopamine replacement and improvement of autonomic failure. Clonazepam, propranolol, baclofen, amantadine, gabapentin, buspirone have also been used for symptomatic treatment of ataxia in MSA patients, but their efficacy known modest and transient. Herein we describe a MSA-C patient with disabling ataxia and sick sinus syndrome who showed distinct improvement in her symptoms after amantadine treatment and cardiac pacemaker implantation.

Ataxia-telangiectasia (AT) in an autosomal recessive, multisystemic rare disorder. The core features of the disease are progressive cerebellar ataxia, oculocutaneous telangiectasia, immune deficiency, radiation hypersensitivity and predisposition to malignacy. Except prominent feature cerebellar ataxia, oculomotor apraxia, choreoathetosis, dystonia and neuromuscular symptoms may observed. Neuromuscular abnormalies commonly accompanied the disease in the later stages. Most involvement types are sensorimotor axonal polyneuropathy and spinal muscular atrophy in neuromuscular system. Here we report an adult AT patient with severe neuromuscular system involvement.

Amaç: Parkinson hastalarında ilerleyici şekilde yutma bozukluğu görülmektedir. Bu çalışma; kinezyo bantlamanın (KT) yutma bozukluğu şikayeti olmayan ancak risk altındaki Parkinson’lu hastaların yutma fonksiyonu üzerindeki etkisini elektrofizyolojik yöntemler ile incelemek amacıyla planlandı. Yöntem: Çalışmaya 65 yaş ve üzeri, kardiyopulmoner hastalık öyküsü ve aspirasyon/penetrasyon bulgusu olmayan 18 Parkinson hastası ve 15 sağlıklı yaşlı birey dahil edildi. Bireylere altı hafta boyunca ve haftada üç kez olmak üzere kas fasilitasyon tekniği ile KT uygulandı. KT öncesinde ve altı hafta sonrasında yüzeyel elektromiyografik (EMG) yutma değerlendirmesi olarak tek lokma analizi yapıldı. Sonuçlar: KT öncesi sonuçlara bakıldığında Parkinson hastası grubuna ait laringeal relokasyon (p=0,011) ve submental EMG (SM-EMG) toplam (p=0,009) süreleri daha uzun bulunmasına rağmen, KT uygulaması sonrasında sağlıklı yaşlılara göre fark yoktu (p>0,05). Ayrıca bu grubun KT öncesi ve sonrası grup içi karşılaştırmaları sonucunda laringeal relokasyon (p=0,013) ve SM-EMG toplam (p=0,011) sürelerinin kısaldığı bulundu. Tartışma: Çalışmamızın sonucunda altı haftalık KT uygulaması ile Parkinson hastalarında larinks hareket süresi ve submental kas aktivasyonunun gelişerek yutma fonksiyonunda ilerleme sağlandığı görüldü. KT, yutma bozukluğu olan hastalarda destekleyici tedavi yöntemi olarak kullanılabilir. Yutma bozukluğunun ileri evrelerinde ise, etkinliğinin araştırılması gerekmektedir., Purpose: Progressive swallowing disorder is seen in Parkinson's patients. This study was designed to investigate the effect of kinesio taping (KT) on swallowing function by electrophysiological methods in Parkinson patients who had not swallowing problem, however, under risk. Methods: Eighteen with Parkinson’s disease and 15 healthy elderly who were 65 years and older, with no cardiopulmonary history and airway aspiration/penetration symptom were included in this study. They were applied KT with muscle facilitation technique for six weeks and three times per week. Single bolus analysis as surface electromyographic (EMG) swallowing evaluation was performed before and six weeks after the KT procedure. Results: According to pre-KT results, laryngeal relocation (p=0.011) and submental EMG (SMEMG) total duration (p=0.009) were longer at Parkinson patients group although there was not any difference at post-KT (p>0.05). Furthermore, the before-after intragroup comparison showed that laryngeal relocation (p=0.013) and SM-EMG total duration (p=0.011) were found to be shorten. Conclusion: The result of our study shows that larynx movement time and submental muscle activation were improved with six weeks of KT application in Parkinson's patients. KT can be used as a complementary treatment method in patients with swallowing disorder. However, further research is needed to explore the efficiency in advanced stages of swallowing disorder.

PubMed: 30058754 We present three siblings afflicted with a disease characterized by cerebellar ataxia, cerebellar atrophy, pyramidal tract damage with increased lower limb tendon reflexes, and onset of 31 to 57 years, which is not typical for a known disease. In a region of shared homozygosity in patients, exome sequencing revealed novel homozygous c.*240T > C variant in the 3?UTR of STUB1, the gene responsible for autosomal recessive spinocerebellar ataxia 16 (SCAR16). In other genes, such an alteration of the evolutionarily highly conserved polyadenylation signal from AATAAA to AACAAA is known to highly impair polyadenylation. In contrast, RNA sequencing and quantification revealed that neither polyadenylation nor stability of STUB1 mRNA is affected. In silico analysis predicted that the secondary structure of the mRNA is altered. We propose that this change underlies the extremely low amounts of the encoded protein in patient leukocytes. © 2018 Wiley Periodicals, Inc. Türkiye Bilimsel ve Teknolojik Araştirma Kurumu, TÜBITAK: 114Z829 Türkiye Bilimsel ve Teknolojik Araştirma Kurumu, TÜBITAK Sehime G. Temel, Department of Medical Genetics, Department of Histology and Embryology, Faculty of Medicine, Uludag? University, Gorukle Campus, 16059 Nilufer, Bursa, Turkey Email: sehimegtemel@hotmail.com Aslıhan Tolun, Department of Molecular Biology andGenetics,Bog?aziçiUniversity,Istanbul, Turkey. Email: tolun@boun.edu.tr Funding Information This study was supported by the Scientific and Technological Research Council of Turkey (TÜBITAK) Grant 114Z829.

Autonomic dysreflexia is a clinical emergency syndrome of uncontrolled sympathetic output that can occur in patients who have a history of spinal cord injury. Despite its frequency in spinal cord injury patients, central nervous system complications are very rare. We report a man with traumatic high level incomplete spinal cord injury who suffered hypertensive right thalamic hemorrhage secondary to an episode of autonomic dysreflexia. Prompt recognition and removal of the triggering factor, the suprapubic catheter obstruction which led to hypertensive attack, the patient had a favorable functional outcome after the resorption of the hematoma and effective rehabilitation programme.

We conducted this study to determine familial Mediterranean fever (FMF)-associated central nervous system involvement including demyelinating lesions, stroke, and posterior reversible leukoencephalopathy syndrome (PRES). Patients with MEFV mutations were systematically reviewed through the Medical Biology Unit database. All samples sent for mutation analysis were screened for 10 common MEFV mutations. Patients with FMF and neurologic disorders according to the clinical records were invited for reevaluation. Lumbar puncture, electroencephalography, and evoked potentials were used to determine the type of neurologic involvement in selected cases. Electrocardiography, transthoracic and/or transesophageal echocardiography, and magnetic resonance imaging and/or angiography were performed to clarify the etiology of cerebrovascular disease. Of 8864 patients in the genetic testing database, 18 with neurologic signs were assessed. The mean age of patients was 31.0 +/- 11.8 years, mean age at first FMF symptom was 12.6 +/- 5.6 years, and mean age at neurologic involvement was 25.8 +/- 12.2 years. Fifty-five percent of patients were women. A homozygote MEFV mutation was detected in 16 of 18 patients (88.8%), and a homozygote M694V mutation was found in 72.2% of patients. We found 7 FMF patients with demyelinating lesions, 7 with cerebrovascular disease, and 4 with PRES. The mean interval between first FMF sign and neurologic involvement was 13.7 +/- 8.9 years in the demyelinating group, and 23.4 +/- 10.3 years in the group with cerebrovascular disease. Mean stroke age was 28.5 +/- 16.4 years. All patients in the PRES group had hypertension. Three different neurologic conditions in FMF patients were noticeable. Demyelinating lesions and cerebrovascular disease were the most common clinical presentations. Approximately 70% of patients had the homozygote M694V mutation. Neurologic involvement is rare but serious in FMF.

Acute ischemia of the corpus callosum (CC) is not a well-known feature in patients with acute hydrocephalus. Herein, we describe a case with acute CC infarction due to another rare entity; transient obstructive hydrocephalus. A 66-year-old male was admitted with sudden onset right-sided hemiparesia. CT demonstrated a hematoma on the left basal ganglia with extension to all ventricles. The following day, the patient's neurological status progressed to coma and developed bilateral pyramidal signs. MRI demonstrated obstructive hydrocephalus and acute diffuse infarction accompanied by elevation of the CC. On the same day there was improvement in his neurological status with significant decrease in ventricular size and complete resolution of the clot in the third ventricle. The mechanism of signal abnormalities is probably related with the neural compression of the CC against the falx. Presumably, the clot causing obstruction in the third ventricle dissolved or decayed by the help of fibrinolytic activity of CSF, which was raised after IVH and caused spontaneous improvement of hydrocephalus. Bilateral neurological symptoms suggest diffuse axonal damage and normalization of the intracranial pressure should be performed on the early onset of clinical detorioration in order to prevent axonal injury.

We report a typical fragile X-associated tremor/ataxia syndrome (FXTAS) case with the consent of the patient. A 68-year-old man presented to our clinic with a 12-year history of progressive gait ataxia and bilateral hand tremor. The patient also experienced problems with impotence, occasional episodes of diarrhea/constipation, and lightheadedness. His family history revealed that his sister and her daughter had a history of premature ovarian failure, and his neurological examination revealed bradymimia, bilateral mild postural and action tremor with terminal dysmetria, and ataxic widebased gait. Both loss of distal reflexes and reduction in vibratory sense were observed. A detailed neurocognitive evaluation revealed mild frontal-type dysfunction. His cranial MRI showed generalized cerebral atrophy and increased T2 signal intensity in bilateral middle cerebellar peduncles and lateral periventricular areas (Figure 1). Nerve conduction studies showed motor and sensory demyelinating polyneuropathy in his lower extremities (Figure 2). His heart rate variability test revealed autonomic system involvement toward parasympathetic activity, and his genetic test revealed expanded CGG repeat above 60 within the premutation range (55–200) in the fragile X mental retardation 1 (FMR1) gene.

BACKGROUND l-2-Hydroxyglutaric aciduria is a rare progressive neurometabolic disorder of childhood inherited as an autosomal recessive trait. Urine organic-acid screening is necessary for its diagnosis. Although it is a disorder of childhood, recently adult cases have been reported. CASES Here we report 4 adult patients in whom diagnoses were established in adulthood. These patients had some interesting features. First, their diagnoses were delayed until adulthood because of mild clinical symptoms. In such cases, the typical MRI findings are the best diagnostic clue for l-2-Hydroxyglutaric aciduria. Second, there was a correlation between the severity of the clinical course and the extent of MRI findings. The cerebral white-matter lesions were diffuse and confluent on the MRI of 3 of the 4 patients, who also experienced a rapidly progressive clinical decline. Third, there were different clinical presentations even within the same family. CONCLUSIONS For the evaluation of patients with symptoms referable to cerebellar, pyramidal, extrapyramidal, or cognitive impairment as well as seizures associated with subcortical white-matter and symmetrical dentate nuclei and basal ganglia involvement on MRI, urine organic acid analysis should be included in the evaluation, regardless of patient's age.

We report a patient with a testicular teratoma and seminoma, who developed treatment-responsive encephalitis associated with antibodies to NMDA receptor, but not antibodies to Ma2 protein. A 30-year-old male was admitted to hospital with a 1-week history of personality changes, confusion, agitation and recurrent generalised tonic-clonic seizures. His past medical history was unremarkable, except for the presence of generalised fatigue and sore throat a few days before symptom onset. On physical examination, the only pathological finding was bilateral testicular enlargement. He was agitated and disoriented to time, place and person; his speech was incoherent, and he had persecutory and erotic delusions. The rest of the neurological examination was normal. The initial laboratory studies, including complete blood count, biochemistry, EEG and brain MRI, were normal. The CSF examination was significant for an elevated protein concentration (113 mg/dl) with normal glucose content and mild leukocytosis (25 cells/μl); bacterial and viral studies, including PCR for herpes simplex virus, were negative. Testicular ultrasound revealed the presence of a left testicular mass and right testicular torsion. Computerised tomography of the chest, abdomen and pelvis demonstrated the presence of a retroperitoneal lesion, which was suggestive of metastasis. These findings led us to consider the diagnosis of paraneoplastic encephalitis. Accordingly, CSF …