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Condition: Ataxia

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Total 492 results found since Jan 2013.

Oculopalatal tremor, facial myokymia and truncal ataxia in a patient with neurosarcoidosis
We report, to our knowledge, the first patient with neurosarcoidosis with simultaneous SPT and FM. A 49-year-old African American woman, with non-caseating granulomas in a paratracheal lymph node biopsy, presented with progressive gait disturbances for the last 3years. Neurological examination revealed ataxic speech, bilateral rotatory nystagmus, myokymia of the chin and perioral muscles, palatal tremor without ear click and marked truncal ataxia. MRI demonstrated a lesion involving the facial nucleus and the right middle cerebellar peduncle. Based on exclusion of alternative etiologies, a diagnosis of neurosarcoidosis was...
Source: Journal of Clinical Neuroscience - November 29, 2014 Category: Neuroscience Source Type: research

Relevance of corpus callosum splenium versus middle cerebellar peduncle hyperintensity for FXTAS diagnosis in clinical practice
We report a practical justification of the relevance of CCS hyperintensity in parallel with MCP hyperintensity for the diagnosis of FXTAS. Clinical and radiological study of 22 FMR1 premutation carriers with neurological signs that may be encountered in FXTAS compared to series of patients with essential tremor, multiple system atrophy of cerebellar type, Parkinson’s disease, Alzheimer’s disease and stroke. Among the 22 patients with FMR1 premutation [17 men, 5 women; mean age, 63 ± 7.5 (46–84)], 14 were diagnosed with definite FXTAS with the initial criteria. Considering CCS hyperintensity as a new major radiolog...
Source: Journal of Neurology - December 2, 2014 Category: Neurology Source Type: research

Clinical Reasoning: A 28-year-old man with progressive gait disturbance and encephalopathy
A 28-year-old man with sickle cell disease presented with 7 months of difficulty walking. Initial examination 3 months prior to admission to our hospital was thought to be consistent with a polyneuropathy. He was areflexic, was unable to stand on toes or heels with decreased sensation on the left foot to light touch and vibration, had difficulty with heel to shin, and was unable to perform tandem gait. Laboratory tests revealed anemia (hemoglobin 7.2 g/dL) and elevated creatinine (1.49 g/dL). HIV, antinuclear antibodies, antineutrophil cytoplasmic antibodies, hepatitis serologies, rapid plasma reagin, thyroid-stimulating h...
Source: Neurology - December 8, 2014 Category: Neurology Authors: Massaro, A. M., Pruitt, A. Tags: Stroke in young adults, MRI, Gait disorders/ataxia, All Oncology RESIDENT AND FELLOW SECTION Source Type: research

Inaugural Cerebral Sinovenous Thrombosis Revealing Homocystinuria in a 2-Year-Old Boy
We report on the case of a 2-year-old boy with mild psychomotor delay, who presented with nonfebrile acute ataxia. A brain computed tomographic (CT) scan showed complete thrombosis of the superior sagittal sinus, confirmed by magnetic resonance angiography and associated with a right frontal hemorrhagic infarction. Systematic screening for thrombophilia revealed homocystinuria linked to cystathionine β-synthase deficiency with underlying compound heterozygosity. The evolution was favorable after anticoagulant therapy, specific diet, and vitamin supplementation. This case is of interest because of the unusual clinical ...
Source: Journal of Child Neurology - December 23, 2014 Category: Neurology Authors: Saboul, C., Darteyre, S., Ged, C., Fichtner, C., Gay, C., Stephan, J.-L. Tags: Brief Communication Source Type: research

Vertebral artery dissection after a chiropractor neck manipulation.
This report illustrates the potential hazards associated with neck trauma, including chiropractic manipulation. The vertebral arteries are at risk for aneurysm formation and/or dissection, which can cause acute stroke. PMID: 25552813 [PubMed]
Source: Baylor University Medical Center Proceedings - January 1, 2015 Category: Universities & Medical Training Authors: Jones J, Jones C, Nugent K Tags: Proc (Bayl Univ Med Cent) Source Type: research

Rheumatoid Arthritis–Induced Lateral Atlantoaxial Subluxation With Multiple Vertebrobasilar Infarctions
Conclusion. In patients with RA, the potential risk of AAS should be recognized. Lateral AAS in particular may induce cerebral ischemia by positional VA occlusion in advanced stages of the disease. Level of Evidence: N/A
Source: Spine - January 31, 2015 Category: Orthopaedics Tags: Case Report Source Type: research

Phenotypes and Genotypes of Mitochondrial Disease- Findings from A National Mitochondrial Disease Cohort (P2.061)
Conclusion: This national cohort offers a unique opportunity to deep phenotype a large group of mitochondrial disease patients, bridge the gap in our understanding of disease progression, develop clinical guideline on patient care and facilitate patient recruitment for any future trials.Disclosure: Dr. Ng has nothing to disclose. Dr. Gorman has nothing to disclose. Dr. Nesbitt has nothing to disclose. Dr. Pitceathly has nothing to disclose. Dr. Grady has nothing to disclose. Dr. Schaefer has nothing to disclose. Dr. Bright has nothing to disclose. Dr. Feeney has nothing to disclose. Dr. Rahman has nothing to disclose. Dr. ...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Ng, Y. S., Gorman, G., Nesbitt, V., Pitceathly, R., Grady, J., Schaefer, A., Bright, A., Feeney, C., Rahman, S., Poulton, J., Taylor, R., Hanna, M., Turnbull, D., McFarland, R. Tags: ALS and Motor Neuron Disease Source Type: research

Neuro-Behcet's Syndrome:Case Reports Emphasizing Challenges of Early Diagnosis (P2.075)
CONCLUSIONS: In both cases, NBS was ultimately diagnosed based on characteristic MRI findings, particularly fluctuating brain stem-diencephalic involvement, superimposed on supportive clinical and CSF profiles. Challenges to early diagnosis are highlighted by our cases and by the literature. The differential diagnosis is often broad at onset. Mucocutaenous symptoms can be a clue but may not be present. Awareness of NBS and its neuroimaging correlates is critical to enable timely diagnosis, particularly given that this condition can favorably respond to steroids and steroid-sparing agents.Disclosure: Dr. Feldman has nothing to disclose.
Source: Neurology - April 8, 2015 Category: Neurology Authors: Feldman, E. Tags: Neurological Consequences of Autoimmune Disease Source Type: research

Exome Sequencing Improves Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia (S32.003)
Conclusions: This study demonstrates that clinical exome sequencing in patients with adult-onset and sporadic presentations of ataxia is a high yield test, providing a definitive diagnosis in over one-fifth of patients, and suggesting a potential diagnosis in more than one-third to guide additional phenotyping and diagnostic evaluation. Clinical exome sequencing is therefore an appropriate consideration in the routine genetic evaluation of all patients presenting with chronic progressive cerebellar ataxia. Study Supported By: The National Institute of Mental Health, the National Institute for Neurological Disorders and Str...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Fogel, B., Lee, H., Deignan, J., Strom, S., Kantarci, S., Wang, X., Quintero-Rivera, F., Vilain, E., Grody, W., Perlman, S., Geschwind, D., Nelson, S. Tags: Movement Disorders: Tremor, Ataxia, and More Platform Blitz Source Type: research

Predictors of Poor Outcome in Neuroleptic Malignant Syndrome: Retrospective Analysis of Nationwide Inpatient Sample (S32.006)
CONCLUSIONS: In patients admitted for neuroleptic malignant syndrome, every decade increment in age, acute kidney injury, seizures and respiratory failure were positive predictors of poor outcome. Every calendar year increase was a negative predictor of poor outcome. Study Supported by:Disclosure: Dr. Modi has nothing to disclose. Dr. Dharaiya has nothing to disclose.
Source: Neurology - April 8, 2015 Category: Neurology Authors: Modi, S., Dharaiya, D. Tags: Movement Disorders: Tremor, Ataxia, and More Platform Blitz Source Type: research

Minor trauma causing stroke in a young athlete - Gupta V, Dhawan N, Bahl J.
A 17-year-old Caucasian male presented with sudden dizziness, ataxia, vertigo, and clumsiness lasting for a couple of hours. He had a subtle trauma during a wrestling match 2 days prior to the presentation. A CT Angiogram (CTA) and MRI showed left vertebra...
Source: SafetyLit: All (Unduplicated) - April 24, 2015 Category: Global & Universal Tags: Age: Adolescents Source Type: news

An Unusual Stroke-like Clinical Presentation of Creutzfeldt-Jakob Disease: Acute Vestibular Syndrome
Conclusions: To our knowledge, this is the first report of an initial presentation of Creutzfeldt-Jacob disease closely mimicking vestibular neuritis, expanding the known clinical spectrum of prion disease presentations. Despite the initial absence of neurological signs, the central lesion location was differentiated from a benign peripheral vestibulopathy at the first visit using simple bedside vestibular tests. Familiarity with these tests could help providers prevent initial misdiagnosis of important central disorders in patients presenting vertigo or dizziness.
Source: The Neurologist - April 1, 2015 Category: Neurology Tags: Case Report/Case Series Source Type: research

Clinical and Neuroimaging Features in Two Children with Mutations in the Mitochondrial ND5 Gene
This study reports the clinical and magnetic resonance imaging findings in two pediatric patients with mutations in the ND5 gene of mitochondrial DNA. The 8-month-old boy with m.13513 G > A mutation presented with infantile basal ganglia stroke syndrome secondary to mineralizing angiopathy. The 7-year-old girl with the m.13514A > G mutation had episodic regression, progressive ataxia, optic atrophy, and hyperactivity. Magnetic resonance imaging of the brain showed bilateral symmetrical signal intensity changes in the thalamus, tectal plate, and inferior olivary nucleus, which subsided on follow-up image. Both...
Source: Neuropediatrics - May 14, 2015 Category: Neurology Authors: Sonam, KothariBindu, P. S.Taly, Arun B.Govindaraju, ChikkannaGayathri, NarayanappaArvinda, Hanumanthapura R.Nagappa, MadhuSinha, SanjibKhan, Nahid AktharGovindaraj, PeriyasamyThangaraj, Kumarasamy Tags: Short Communications Source Type: research

Region‐Specific Alterations of Matrix Metalloproteinase Activity in Multiple System Atrophy
ConclusionThese results demonstrate widespread alterations of matrix metalloproteinase expression in MSA and a pattern of increased matrix metalloproteinase‐2 expression and activity affecting preferentially a brain region severely affected (putamen) over a relatively spared region (frontal cortex). Elevated matrix metalloproteinase expression may thus contribute to the disease process in MSA by promoting blood–brain barrier dysfunction and/or myelin degradation. © 2015 International Parkinson and Movement Disorder Society
Source: Movement Disorders - August 1, 2015 Category: Neurology Authors: Fares Bassil, Arnaud Monvoisin, Marie‐Helene Canron, Anne Vital, Wassilios G. Meissner, François Tison, Pierre‐Olivier Fernagut Tags: Research Article Source Type: research

Periprocedural and mid-term technical and clinical events after flow diversion for intracranial aneurysms
Conclusions Flow diversion for intracranial aneurysms is a safe and effective treatment. Technical and clinical events are common in the perioperative period. Careful perioperative care and proper management of technical and clinical events encountered is key to achieving low morbidity and mortality. Late clinical events can occur but are unlikely to result in permanent complications.
Source: Journal of NeuroInterventional Surgery - August 12, 2015 Category: Neurosurgery Authors: Burrows, A. M., Cloft, H., Kallmes, D. F., Lanzino, G. Tags: Hemorrhagic stroke, New devices Source Type: research