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Condition: Ataxia

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Total 492 results found since Jan 2013.

Teaching NeuroImages: Superficial siderosis due to a dural cervical arteriovenous fistula
A 58-year-old man presented to our hospital with cerebellar ataxia, pyramidal signs, dysarthria, bilateral deafness, and cognitive impairment. These symptoms were consistent with superficial siderosis (SS) of the CNS, confirmed by MRI (figure A).1 Cerebral angiography showed a dural arteriovenous fistula perispinal and pontic with venous drainage in the left foramen C1-C2, fed by meningeal branches of the vertebral artery (figure, B). The fistulous point was clipped. SS of CNS is a rare disease resulting from hemosiderin deposition on the surface of the CNS and cranial nerves.2 At diagnosis, the etiology may...
Source: Neurology - February 19, 2017 Category: Neurology Authors: Madkouri, R., Grelat, M. Tags: All Cerebrovascular disease/Stroke, All Spinal Cord, Arteriovenous malformation, Subarachnoid hemorrhage RESIDENT AND FELLOW SECTION Source Type: research

Validity and reliability of the LEMOCOT in the adult ARSACS population: A measure of lower limb coordination
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neuromuscular disease leading to several impairments, including decrease of lower limb coordination. The Lower Extremity Motor Coordination Test (LEMOCOT) is an outcome measure recently developed for stroke population. The aim of this study was to document: 1) intra- and interrater reliability; 2) the standard error of measurement and minimal detectable change; and 3) the construct validity of the measurements obtained with the LEMOCOT in the adult ARSACS population.
Source: Journal of the Neurological Sciences - March 29, 2017 Category: Neurology Authors: Isabelle Lessard, Caroline Lavoie, Isabelle C ôté, Jean Mathieu, Bernard Brais, Cynthia Gagnon Tags: Clinical Short Communication Source Type: research

Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia
Phosphomannomutase-2 deficiency-congenital disorder of glycosylation (PMM2-CDG), congenital disorder of glycosylation type-Ia or Jaeken syndrome (MIM #601785) is an autosomal recessive inherited condition of abnormal glycosylation of N-linked oligosaccharides [1]. Disease course is variable, ranging from infantile forms with multisystem involvement and a childhood-adult ataxia-intellectual disability type with neurologic stable form [1,2]. The phenotypic spectrum includes morphological abnormalities, ataxia, developmental delay, strabismus, retinopathy, seizures, stroke-like episodes, peripheral neuropathy, hypergonadotrop...
Source: Journal of the Neurological Sciences - April 23, 2017 Category: Neurology Authors: Malco Rossi, Alex Medina Escobar, Lucia Ameghino, Marcelo Merello Tags: Letter to the Editor Source Type: research

An Unusual Presentation of Varicella Zoster Virus with Acute Cerebellitis and SIADH without a rash. (P2.315)
Conclusions:This report illustrates an unusual presentation of acute VZV cerebellitis and encephalitis, without a rash. To our understanding, this shows for the first time, severe acute onset neurological sequelae due to VZV.Disclosure: Dr. Lubomski has nothing to disclose. Dr. Markus has nothing to disclose. Dr. Brown has nothing to disclose.
Source: Neurology - April 17, 2017 Category: Neurology Authors: Lubomski, M., Markus, R., Brown, L. Tags: HIV, HTLV-I, PML, Other Viral Infections, and CJD Source Type: research

Hemorrhagic stroke following consumption of energy drink (P3.271)
Conclusions:Apart from high levels of caffeine, Red Line also contains multiple other compunds like B-Phenylethylamine hydrochloride, Yohimbine, Toothed club moss extract and 5-hydroxytryptophan. Many of these agents are known to have sympathomimetic activity of their own. There is limited awareness of the potential interactions between these agents, and their safety when combined with caffeine. The Red Line bottle recommends that people with hypertension not use it, but our patient had not read these instructions. In conclusion, intracranial hemorrhage must be added to the list of side effects associated with energy drink...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Venkatraman, A., Khawaja, A., Shapshak, A. Tags: Cerebrovascular Disease Case Reports II Source Type: research

A novel CABC1/ADCK3 mutation in Adult-onset cerebellar ataxia (P6.021)
Conclusions:This is the first report of a duplication mutation on ADCK3/CABC1 in a patient with adult-onset progressive ataxia, chronic motor tics and familial seizures. Further studies are needed to elucidate whether the gain of function or a duplication-induced loss of function play a role in the pathophysiology of this condition.Disclosure: Dr. Malgireddy has nothing to disclose. Dr. Thompson has nothing to disclose. Dr. Torres-Russotto has received pesonal compensation for activities with Abbvie, Allergan, the American Parkinson Disease Foundation (APDA), Lundbeck, Teva, Huntington Disease Society of America (HDSA), Pa...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Malgireddy, K., Thompson, R., Torres-Russotto, D. Tags: Movement Disorders: Tics, Tremor & amp;amp; Ataxia II Source Type: research

Central positional vertigo (P6.045)
Conclusions:Migraine may be a benign cause of CPV, however, a broad spectrum of diseases including tumors, stroke, infections and neurodegenerative disorders may be responsible. Earlier detection of posterior fossa lesions is critical to improve the outcome. Moreover, central positional vertigo/nystagmus could be the very first manifestation of the underlying disease.Central positional nystagmus is often an unrecognized entity. In this series, 3 patients had isolated positional DBN and truncal ataxia as the initial neurologic abnormality, one of them with a CNS neoplasm. Diagnostic clues for central localization are: prese...
Source: Neurology - April 17, 2017 Category: Neurology Authors: De Schutter, D., Kattah, J. Tags: Neuro-opthalmology/Neuro-otology II Source Type: research

Familial Pernicious Chronic Intestinal Pseudo-obstruction with a Mitochondrial DNA A3243G Mutation.
We report the case of a mother and two children who shared a mitochondrial DNA A3243G mutation. The mother had diabetes mellitus, neurogenic bladder, bradykinesia, dystonia, and slowly progressive cerebellar ataxia. Her two daughters were diagnosed with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes at adolescence. They all presented with gastrointestinal symptoms at an advanced clinical stage. They were diagnosed with chronic intestinal pseudo-obstruction, and they were resistant to therapy. The mother and her youngest daughter died from aspiration pneumonia because of vomiting. The dete...
Source: Internal Medicine - May 2, 2017 Category: Internal Medicine Tags: Intern Med Source Type: research

Miller fisher syndrome presenting with prodromal thunderclap headache
Conclusions Although not radiographically confirmed, we postulate the headache may have been due to reversible cerebral vasoconstriction syndrome (RCVS), given the characteristics of the headache and dramatic response to nimodipine. Although headache is infrequently observed in Miller Fisher syndrome, the exact aetiology is unclear and there has been no previously reported association with RCVS.
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 8, 2017 Category: Neurosurgery Authors: Waters, M. J., Kiley, M. Tags: Abstracts Source Type: research

Sneddon ’s syndrome—A diagnostic and therapeutic challenge
A 49-year-old female presented with a four-hour history of ataxia and left-sided hemidysesthesia. A generalized, irregular, violaceous, net-like skin pattern was noted. The young patient had suffered five strokes over the last six years. In the past, despite extensive workup, no diagnosis had been made. Antinuclear and anti-phospholipid antibodies were negative, and no evidence of thrombophilia was found. Magnetic resonance imaging showed acute dot-like diffusion anomalies in the medial and posterior cerebral artery-supplied areas as well as old stroke residues.
Source: Journal of the American Academy of Dermatology - May 31, 2017 Category: Dermatology Source Type: research

Acute Toxicity and Genotoxicity of Fermented Traditional Medicine Oyaksungi-san
Conclusion As a whole, no acute toxicity and genotoxicity were observed in all the assays examined. Therefore fermented OY considered to be a safe material which can be used for development of complementary and alternative medicine using bioconversion. Graphical abstract
Source: Integrative Medicine Research - June 2, 2017 Category: Complementary Medicine Source Type: research

Combination Treatment of Low-Frequency Repetitive Transcranial Magnetic Stimulation and Intensive Occupational Therapy for Ataxic Hemiparesis due to Thalamic Hemorrhage
Conclusions: Our proposed combination treatment is a safe and feasible neurorehabilitative intervention for patients with AH due to thalamic hemorrhage. Our results demonstrate the possibility that rTMS in combination with intensive OT could improve motor function and alleviated ataxia in patients with AH.Case Rep Neurol 2017;9:179 –187
Source: Case Reports in Neurology - July 28, 2017 Category: Neurology Source Type: research

Ataxia and Headache in a Child: A Case of Acute Cerebellar Infarction
Abstract: A 4-year-old female patient presents to the pediatric emergency department with acute onset of ataxia and occipital headache. Initial investigation, including computed tomography imaging, failed to demonstrate any focal neurologic lesion. Subsequent studies, however, reveal an acute thrombosis of the superior cerebellar artery. Further work up identified the likely causative factor to be a heterozygous mutation at the methylene tetrahydrofolate reductase gene. In this case report, we will discuss the work-up of pediatric ataxia, the evaluation and management of cerebrovascular accidents in children, and the assoc...
Source: Pediatric Emergency Care - August 1, 2017 Category: Emergency Medicine Tags: Illustrative Cases Source Type: research

Parvovirus B19 infection associated with hemolytic anemia and cranial polyneuropathy
AbstractParvovirus B19 (PB19) is a common, widespread, small, single-stranded DNA virus which has been linked with a broad spectrum of clinical illnesses, including a variety of neurological complications such as encephalitis, meningitis, myelitis, stroke, cerebellar ataxia, and neuropathy. The authors describe a case of PB19 infection associated with hemolytic anemia and cranial polyneuropathy involving the second and third cranial nerves in a 23-year-old immunocompetent woman. The diagnosis of acute PB19 infection was established with detection of positive DNA and anti-PB19 IgM antibodies in blood samples. Antigangliosid...
Source: Journal of NeuroVirology - August 22, 2017 Category: Neurology Source Type: research

Poster 358: Effective Proprioceptive Exercises for Sensory Ataxia due to Thalamic Stroke: A Case Report
Baruch Kim: I Have No Relevant Financial Relationships To Disclose
Source: PM and R - September 1, 2017 Category: Rehabilitation Authors: Baruch Kim Resident, Yu M. Chiu, Xuemei Qu Source Type: research