We studied 46 patients with paroxysmal dyskinesia and classified them according to phenomenology, duration of attacks, and etiology. There were 13 patients, 7 females, who had paroxysmal kinesigenic dyskinesia (PKD), 10 with attacks lasting 5 minutes or less (short lasting) and 3 with attacks lasting longer than 5 minutes (long lasting). Twenty-six patients, 18 females, had paroxysmal nonkinesigenic dyskinesia (PNKD), 9 with short-lasting and 17 with long-lasting PNKD. Five patients, 3 females, had paroxysmal exertion-induced dyskinesia (PED), 3 with short-lasting PED and the other 2 with long-lasting PED. In addition, there was 1 patient with paroxysmal hypnogenic dyskinesia (PHD) and 1 with paroxysmal superior oblique myokymia. Only 2 patients, 1 with PKD and 1 with PHD, had family history of paroxysmal dyskinesias. No specific cause could be identified in 21 patients; in the other 23 patients the etiologies included the following: psychogenic (9 patients), cerebrovascular diseases (4), multiple sclerosis (2), encephalitis (2), cerebral trauma (2), peripheral trauma (2), migraine (1), and kernicterus (1). Nine of 10 (90%) patients with PKD improved with medications, mostly anticonvulsants, compared with only 7 of 19 (37%) with PNKD. This new classification, based chiefly on precipitating events, allowed appropriate categorization of the attacks in all our patients with paroxysmal dyskinesias.

SD is an underestimated, common symptom of MS. It may occur in MS even in the absence of severe disability. Physicians' awareness of this problem may help to bring about appropriate treatments and management, and improve the quality of life for these patients.

Although a slightly better prognosis is observed in the Turkish MS population, early prognostic factors are similar to most of the previous Western series. Primary progressive disease, mostly seen in older men with motor and sphincter involvement at onset, has a worse prognosis and may represent a distinct behavioral variant of MS.

The differences in the clinical features support the concept that VP is a distinct clinical entity with heterogeneous clinical, MRI, and possibly pathophysiological features.

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Background and aim The effect of epigenetic modifications in the genes related to Parkinson's disease (PD) is still unclear. In the present study, we investigated methylation status of SNCA and PARK2 genes in patients with early-onset Parkinson's disease (EOPD). Materials and methods The promoter region methylation status of SNCA and PARK2 genes was evaluated by methylation specific-PCR (MSP) in 91 patients with EOPD and 52 healthy individuals. Results The methylation of SNCA and PARK2 promoter regions were significantly lower in EOPD patients compared to the control group (P = 0.013 and P = 0.03, respectively). We also found that the methylation status of the SNCA might be associated with positive family history of PD (P = 0.042). Conclusion Although it should be supported by further analysis, based on the results of the present study, the methylation status of SNCA and PARK2 genes might contribute to EOPD pathogenesis.

Objective: To evaluate the choroidal thickness in patients with multiple sclerosis (MS) using enhanced depth imaging optical coherence tomography (EDI-OCT). Methods: In this observational comparative study, 68 eyes of 34 MS patients and 60 eyes of 30 healthy subjects were evaluated. All participants underwent complete ophthalmologic examination and OCT scanning. Choroidal thickness measurements were performed at seven points. Results: The mean subfoveal choroidal thickness was reduced significantly in MS patients (310.71 ± 61.85 μm) versus healthy controls (364.85 ± 41.81 μm) (p < 0.001). The difference was also significant at all six measurement points (p < 0.001 for all). Choroidal thickness measurements revealed no significant difference between MS eyes with a prior optic neuritis (ON) history (MS ON) and those without ON history (MS non-ON). Subfoveal choroidal thickness did not correlate with retinal nerve fiber layer and Expanded Disability Status Scale score, but reduced choroidal thickness was associated with longer disease duration (r = -0.28, p = 0.019) in MS patients. Conclusion: In MS patients, choroidal structural changes occur both in MS ON and MS non-ON eyes. The decreased choroidal thickness might provide evidence to support a potential role of vascular dysregulation in the pathophysiology of MS.

A 41-year-old woman presented with a 6-month history of gradually progressive postural instability and dysarthria associated with cerebellar and extrapyramidal signs. No Kayser-Fleischer (K-F) rings were observed on biomicroscopic examination of each cornea. The only evidence of hepatic dysfunction was a modest elevation of alanine-aminotransferase. The diagnosis of Wilson disease (WD) was based on low serum ceruloplasmin, abnormal serum copper and urinary copper excretion, and DNA marker segregation analysis. WD should be considered in the presence of characteristic neurologic and laboratory features, regardless of age at onset, evidence of hepatic dysfunction, or absence of K-F rings.