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Condition: Ataxia

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Total 492 results found since Jan 2013.

Metabolic stroke in a patient with bi-allelic OPA1 mutations
We describe metabolic stroke in a patient with bi-allelicOPA1 mutations. A twelve-year old girl presented with a complex neurological disorder that includes: early onset optic atrophy at one year of age, progressive gait ataxia, dysarthria, tremor and learning impairment. A metabolic stroke occurred at the age of 12  years. The patient was found to harbor a de novo heterozygous frame shift mutation c.1963_1964dupAT; p.Lys656fs (NM_015560.2) and a missense mutation c.1146A >  G; Ile382Met (NM_015560.2) inherited from her mother. The mother, aunt, and grandmother are heterozygous for the Ile382Met mutation and are as...
Source: Metabolic Brain Disease - April 9, 2019 Category: Neurology Source Type: research

Acute cerebellar ataxia: differential diagnosis and clinical approach
ABSTRACT Cerebellar ataxia is a common finding in neurological practice and has a wide variety of causes, ranging from the chronic and slowly-progressive cerebellar degenerations to the acute cerebellar lesions due to infarction, edema and hemorrhage, configuring a true neurological emergency. Acute cerebellar ataxia is a syndrome that occurs in less than 72 hours, in previously healthy subjects. Acute ataxia usually results in hospitalization and extensive laboratory investigation. Clinicians are often faced with decisions on the extent and timing of the initial screening tests, particularly to detect treatable causes. Th...
Source: Arquivos de Neuro-Psiquiatria - April 4, 2019 Category: Neurology Source Type: research

Mitochondrial metabolic stroke: Phenotype and genetics of stroke-like episodes
Stroke-like episodes (SLEs) are the hallmark of mitochondrial encephalopathy with lactic acidosis and stroke-like episode (MELAS) syndrome but rarely occur also in other specific or nonspecific mitochondrial disorders. Pathophysiologically, SLLs are most likely due to a regional disruption of the blood-brain barrier triggered by the underlying metabolic defect, epileptic activity, drugs, or other factors. SLEs manifest clinically with a plethora of cerebral manifestations, which not only include features typically seen in ischemic stroke, but also headache, epilepsy, ataxia, visual impairment, vomiting, and psychiatric abnormalities.
Source: Journal of the Neurological Sciences - March 22, 2019 Category: Neurology Authors: Josef Finsterer Tags: Review Article Source Type: research

Acute alcohol intoxication may cause delay in stroke treatment – case reports
The signs and symptoms of acute alcohol intoxication resemble those of vertebrobasilar stroke. Due to their shared symptoms including double vision, nystagmus, dysarthria, and ataxia, the differential diagnosi...
Source: BMC Neurology - January 29, 2019 Category: Neurology Authors: Tamas Arokszallasi, Eszter Balogh, Laszlo Csiba, Istvan Fekete, Klara Fekete and Laszlo Olah Tags: Case report Source Type: research

The use of motor learning and neural plasticity in rehabilitation for ataxic hemiparesis: A case report.
DISCUSSION: This case report describes a novel intervention strategy for a patient with ataxia following a lacunar stroke. The application of the principles of neural plasticity and motor learning was the foundation for a function-based plan of care. PMID: 30686101 [PubMed - as supplied by publisher]
Source: Physiotherapy Theory and Practice - January 27, 2019 Category: Physiotherapy Authors: Crum EO, Baltz MJ, Krause DA Tags: Physiother Theory Pract Source Type: research

Central nervous system varicella zoster vasculopathy in an immunocompromised patient
ConclusionThis clinical case and review of the literature highlights the challenges in the diagnosis and management of VZV CNS vasculopathy in immunocompromised patients.
Source: IDCases - December 29, 2018 Category: Infectious Diseases Source Type: research

Discrepancy between perfusion- and diffusion-weighted images in ischemic stroke: A case report
Rationale: With the development of multi-slice computed tomography (CT) technology, perfusion CT angiography (p-CTA) is now widely used for the diagnosis of acute cerebral infarction. Although p-CTA has the advantage of distinguishing between an ischemic penumbra and an infarct core, more research is needed with respect to its clinical use. Patient concerns: A healthy 36-year-old man experienced sudden dizziness while swimming. His dizziness persisted irrespective of the change in position, and then improved during transport. He had no neurological abnormality when he arrived at the emergency room. Diagnoses: CT pe...
Source: Medicine - December 1, 2018 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Acute-Onset Ataxia and Transient Cerebellar Diffusion Restriction Associated with a PRRT2 Mutation
PRRT2 gene mutations cause paroxysmal kinesigenic dyskinesia (PKD), infantile convulsions, hemiplegic migraine, and episodic ataxia. A 21-year-old woman reported an episode of dizziness and ataxic gait occurring after swimming. Brain MRI showed a hyperintense cerebellar lesion on diffusion-weighted imaging (DWI) with decreased apparent diffusion coefficient. The clinical course was favorable. Both clinical and MRI abnormalities regressed. Her brother had presented PKD since adulthood. A C.649dupC PRRT2 truncating mutation was identified in both patients.
Source: Journal of Stroke and Cerebrovascular Diseases - November 28, 2018 Category: Neurology Authors: Nicolas Legris, Olivier Chassin, Ghaidaa Nasser, Florence Riant, Elisabeth Tournier-Lasserve, Christian Denier Tags: Case Report Source Type: research

Dentate nucleus stimulation in a patient with cerebellar ataxia and tremor after cerebellar stroke: A long-term follow-up
Cerebellar modulation has emerged as a promise therapy in the movement disorders field, as cerebellum pathways present connections with critical cortical areas. We have previously reported the short-term outcome in a patient with unilateral cerebellar stroke who improved the ataxia after cerebellar neuromodulation [1,2]. The rational hypothesis lies on the fact that unilateral chronic cerebellar ischemic lesions were linked with a decrease in intracortical inhibition in the contralateral motor cortex, culminating to inter-hemispheric asymmetry in cortical excitability, which could contribute to the motor impairment [3].
Source: Parkinsonism and Related Disorders - October 1, 2018 Category: Neurology Authors: Rubens Gisbert Cury, Carina Fran ça, Egberto Reis Barbosa, Ricardo Galhardoni, Guilherme Lepski, Manoel J. Teixeira, Daniel Ciampi de Andrade Tags: Correspondence Source Type: research

Rehabilitation Course and Specification of Dysmetria of a Patient With Ataxia, Dysmetria, and Hemiparesis After a Stroke in the Corona Radiata: A Case Presentation
We present a case of a patient with ataxia, dysmetria, and hemiparesis after a stroke in the corona radiata. The patient had an excellent clinical course with near resolution of symptoms in 2 and a half weeks and returned back to work full duty and full time a couple of weeks later. We use videos of several neurologic tests to demonstrate and characterize the dysmetria. Interestingly, a key characteristic of the dysmetria appears to be different from that seen in patients with dysmetria arising from a cerebellar, thalamic, or pontine lesion. We propose a possible neurophysiologic mechanism—damage to and redundancy of par...
Source: PMandR - September 15, 2018 Category: Rehabilitation Source Type: research

Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes
We report on a new phenotype of COQ4 deficiency: a childhood onset spinocerebellar ataxia with stroke-like episodes.
Source: Molecular Genetics and Metabolism Reports - September 13, 2018 Category: Genetics & Stem Cells Source Type: research

Hemorrhagic stroke and cerebral venous thrombosis: rare neurological sequelae of chickenpox infection
Anuradha Mehta, Aanchal Arora, Manoj Sharma, Rupali Malik, Yogesh Chandra PorwalAnnals of Indian Academy of Neurology 2018 21(3):228-232 Chickenpox (varicella) is primarily a disease of childhood which occurs due to infection with varicella-zoster virus (VZV). Primary VZV infection is rare in adults due to exposure in early childhood in our country. In adults, it is associated with some serious systemic and neurological complications which can follow both primary infection and reactivation of VZV. Neurological sequelae caused by primary VZV infection are rare and include encephalitis, aseptic meningitis, myelitis, acute c...
Source: Annals of Indian Academy of Neurology - September 4, 2018 Category: Neurology Authors: Anuradha Mehta Aanchal Arora Manoj Sharma Rupali Malik Yogesh Chandra Porwal Source Type: research

Mitochondrial DNA mutations in late-onset Leigh syndrome
AbstractLeigh syndrome (LS) is an early onset progressive neurodegenerative disorder with considerable clinical and genetic heterogeneities. Late-onset Leigh syndrome, i.e., onset after age of 2 years, is considered rare and often presents with atypical clinical features. We review the clinical features and imaging studies in a cohort of late-onset Leigh syndrome caused by mtDNA mutations. A total of 16 patients, 6 males and 10 females, were enrolled. The age at presentation was between 2 and 27  years of age. The first three clinical presentations found in our case series were ataxia, bulbar palsy, and pyramidal tract in...
Source: Journal of Neurology - August 20, 2018 Category: Neurology Source Type: research

Clinical Study on 3 Patients with Infarction of the Vermis/Tonsil in the Cerebellum
Infarction of the vermis and the tonsil in the cerebellum presents as truncal and gait ataxia. Acute rotatory vertigo is often present in infarction of the nodulus in the caudal vermis, which is closely associated with the vestibular pathway, but is minor in infarction of the rostral vermis. The rostral vermis receives input from the dorsal spinocerebellar tract (DSCT) which conveys unconsciousness proprioceptive signals from the ipsilateral lower trunk and leg. The present study investigated the characteristics of infarction of the vermis and the tonsil.
Source: Journal of Stroke and Cerebrovascular Diseases - August 16, 2018 Category: Neurology Authors: Katsuhiko Ogawa, Yutaka Suzuki, Takayoshi Akimoto, Akihiko Morita, Makoto Hara, Hirokazu Yoshihashi, Satoshi Kamei, Masayoshi Soma Source Type: research

Chapter 26 Noninvasive stimulation
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Roberta Ferrucci, Alberto Priori The cerebellum plays a fundamental role in movement execution and motor control in humans. Because of multiple cerebellar connections and a broad variety of motor and nonmotor functions, the field of cerebellar stimulation with noninvasive techniques has gained success among researchers in the last few years. These techniques allow investigation of the neural network noninvasively, collecting more information on cerebellar physiology and pathophysiology. Several studies have highlighted the therapeutic pote...
Source: Handbook of Clinical Neurology - June 13, 2018 Category: Neurology Source Type: research