Dysphagia in a Patient with Cervical Dystonia
Dystonia is a movement disorder characterised by involuntary sustained muscle contractions that lead to twisting, repetitive movements and abnormal postures. Two types of Dystonia can be distinguished: Primary Dystonia has no evidence of other pathological abnormalities, and secondary Dystonia which is associated with neurological lesions, either degenerative or traumatic (Albanese et al. 2013). Tourette ’s Syndrome (TS) is a neuropsychiatric disorder that is chronic and typically characterised by motor and vocal tics.
Publication date: Available online 13 October 2017 Source:NeuroImage: Clinical Author(s): Cecile Gallea, Priyantha Herath, Valerie Voon, Alicja Lerner, John Ostuni, Ziad Saad, Shantalaxmi Thada, Jeff Solomon, Silvina G. Horovitz, Mark Hallett Objective To investigate GABA-ergic receptor density and associated brain functional and grey matter changes in focal hand dystonia (FHD). Methods 18 patients with FHD of the right hand and 18 age and gender matched healthy volunteers (HV) participated in this study. We measured the density of GABA-A receptors using [11C] Flumazenil and perfusion using [15O] H2O. Anatomical images we...
Recently, mutations in the collagen gene COL6A3 have been reported in patients with autosomal-recessive, isolated dystonia (DYT27). Zebrafish models of COL6A3 mutations showed deficits in axonal targeting mechanisms. Therefore, COL6A3 mutations have been considered to contribute to irregular sensorimotor circuit formation. To test this hypothesis, we examined structural abnormalities in cerebral fiber tracts of dystonia patients with COL6A3 mutations using diffusion tensor imaging.
Publication date: Available online 12 October 2017 Source:Brain Stimulation Author(s): Gavin J.B. Elias, Andrew A. Namasivayam, Andres M. Lozano Background Survivors of stroke often experience significant disability and impaired quality of life related to ongoing maladaptive responses and persistent neurologic deficits. Novel therapeutic options are urgently needed to augment current approaches. One way to promote recovery and ameliorate symptoms may be to electrically stimulate the surviving brain. Various forms of brain stimulation have been investigated for use in stroke, including deep brain stimulation (DBS). Objecti...
Eur Neurol 2017;78:270 –271
Conditions: Parkinson Disease; Dystonia; Autonomic Dysreflexia Intervention: Other: osteopathic manual therapy Sponsor: New York Institute of Technology Recruiting
Biallelic DNAJC12 mutations were described in children with hyperphenylalaninemia, neurodevelopmental delay, and dystonia. We identified DNAJC12 homozygous null variants (c.187A>T;p.K63* and c.79‐2A>G;p.V27Wfs*14) in two kindreds with early‐onset parkinsonism. Both probands had mild intellectual disability, mild nonprogressive, motor symptoms, sustained benefit from small dose of levodopa, and substantial worsening of symptoms after levodopa discontinuation. Neuropathology (Proband‐A) revealed no alpha‐synuclein pathology, and substantia nigra depigmentation with moderate cell loss. DNAJC12 transcripts were r...
The aim of the present study was to report the short-term as well long-term results of bilateral pallidal stimulation in 6 consecutive patients for severe debilitating craniocervical dystonia (Meige syndrome) using Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS).
In patients with GTP-cyclohydrolase deficient dopa-responsive dystonia (DRD) the occurrence of associated non-motor symptoms (NMS) is to be expected. Earlier studies report conflicting results with regard to the nature and severity of NMS. The aim of our study was to investigate the prevalence of psychiatric disorders, sleep problems, fatigue and health-related quality of life (HR-QoL) in a Dutch DRD cohort.
We report a 3-year-old girl with short stature, mild developmental delay and intellectual disability, minor brain anomalies and very few dysmorphic features including unusual stroma of the irises and corectopia. Exome sequencing reported a de novo pathogenic variant on the ACTB gene. The present report adds a new ocular finding to the phenotypic spectrum which may be mild. PMID: 29024830 [PubMed - as supplied by publisher]