A Case of Metastatic CNS Melanoma of Unknown Primary Presenting with Seizures.

Seizures are a common occurrence. The goal of evaluating a seizure is to identify the etiology and to determine the likelihood of recurrence as well as guide management. We present a unique presentation of a 47-year-old female that presented with late onset seizures admitted due to status epilepticus.

The emerging neurological spectrum of AARS2-associated disorders.

Background: The AARS2 gene encodes a mitochondrial alanyl-transfer RNA synthetase. Defects in this gene have been linked with autosomal recessive inheritance of a variety of different clinical phenotypes.

Case: A 13 year-old boy developed behavioral and psychiatric problems following a mild head injury.

Oromandibular Dystonia: A Clinical Examination of 2,020 Cases.

The goal of this study is to better characterize the phenotypic heterogeneity of oromandibular dystonia (OMD) for the purpose of facilitating early diagnosis. First, we provide a comprehensive summary of the literature encompassing 1,121 cases. Next, we describe the clinical features of 727 OMD subjects enrolled by the Dystonia Coalition (DC), an international multicenter cohort.

Diphasic Worsening of Freezing of Gait in Parkinson's Disease.

Background: The relationship between freezing of gait (FOG) and levodopa response is complex. Some patients respond, some have no response and in some patients levodopa causes FOG. We present 2 cases demonstrating a diphasic worsening of FOG after levodopa dosing.

Freezing of Gait can persist after an acute levodopa challenge in Parkinson's disease.

Study objectives included testing whether presumed levodopa-unresponsive freezing of gait (FOG) in Parkinson's disease (PD) actually persists in the presence of adequate dopaminergic dosing and to investigate whether the presence of other parkinsonian features and their responsiveness to therapy varies across patients without FOG (NO-FOG), with levodopa-responsive FOG (OFF-FOG), and with levodopa-unresponsive FOG (ONOFF-FOG). Fifty-five PD patients completed levodopa challenges after >12-h OFF with supratherapeutic doses of dopaminergic medications. Observed responses in FOG, measured with MDS-UPDRS-III during the patient reported full "ON", were used to classify them as NO-FOG, OFF-FOG, or ONOFF-FOG.