Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0012833 (dizziness)
 9,689 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ataxia, causing imbalance, dizziness and falls, is a leading cause of neurological disability. We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor complex subunit 1 (RFC1) as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and a major cause of late onset ataxia. Here we describe the full spectrum of the disease phenotype in our first 100 genetically confirmed carriers of biallelic repeat expansions in RFC1 and identify the sensory neuropathy as a common feature in all cases to date. All patients were Caucasian and half were sporadic. Patients typically reported progressive unsteadiness starting in the sixth decade. A dry spasmodic cough was also frequently associated and often preceded by decades the onset of walking difficulty. Sensory symptoms, oscillopsia, dysautonomia and dysarthria were also variably associated. The disease seems to follow a pattern of spatial progression from the early involvement of sensory neurons, to the later appearance of vestibular and cerebellar dysfunction. Half of the patients needed walking aids after 10 years of disease duration and a quarter were wheelchair dependent after 15 years. Overall, two-thirds of cases had full CANVAS. Sensory neuropathy was the only manifestation in 15 patients. Sixteen patients additionally showed cerebellar involvement, and six showed vestibular involvement. The disease is very likely to be underdiagnosed. Repeat expansion in RFC1 should be considered in all cases of sensory ataxic neuropathy, particularly, but not only, if cerebellar dysfunction, vestibular involvement and cough coexist.
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PMID:Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion. 3204 May 56

Coronavirus disease (COVID-19) is a novel highly contagious infectious disease caused by the coronavirus SARS-CoV2. The virus affects the human respiratory and other systems, and presents mostly as acute respiratory syndrome with fever, fatigue, dry cough, myalgia and dyspnea. The clinical manifestations vary from no symptoms to multiple organ failure. Majority of patients fully recover. Several postinfectious presumably autoimmune complications of COVID-19 affecting the brain or peripheral large nerve fibers have been reported. This report describes a post COVID-19 patient who developed chronic fatigue, orthostatic dizziness and brain fog consistent with orthostatic hypoperfusion syndrome (OCHOS), a form of orthostatic intolerance, and painful small fiber neuropathy (SFN). Initially, the patient was diagnosed with. OCHOS (detected by the tilt test with transcranial Doppler monitoring) and SFN (confirmed by skin biopsy), and both OCHOS/SFN were attributed to Post Treatment Lyme Disease Syndrome of presumed autoimmune etiology. Patient recovered on symptomatic therapy. COVID-19 triggered exacerbation of OCHOS/SFN responded to immunotherapy with intravenous immunoglobulins. This case suggests that post COVID-19 syndrome may present as an autoimmune OCHOS/SFN and that early immunotherapy may be effective. Further studies are necessary to confirm the link between OCHOS/SFN and COVID-19 disease as well as to confirm the benefit of immunotherapy.
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PMID:Post COVID-19 syndrome associated with orthostatic cerebral hypoperfusion syndrome, small fiber neuropathy and benefit of immunotherapy: a case report. 3298 64

Acoustic Neuromas (AN) are benign tumors of the vestibulocochlear nerve with symptomatology that includes unilateral sensorineural hearing loss, tinnitus, dizziness, facial and/or trigeminal neuropathy. There are different treatment options of AN: watchful waiting, microsurgical resection, stereotactic radiation and the choice depends by many variables such age, health and hearing of patients as size, location and growing status of tumor. The objective of this retrospective study is to better understand the differences in demographic, hearing status, symptoms, tumor characteristics in patients affected by AN presenting at our clinic and analyze the factors that influence the therapeutic choice. One-hundred three patients affected by AN were included in the study. All subjects underwent a detailed clinical interview and audio-vestibular examination, and Magnetic Resonance Imaging (MRI). Tumor status, growing or stable was estimated comparing new size to any previous MRI with at least a 6-month interval. Descriptive statistics were used for clinical and demographic features of patients. Therapeutic choices related to subjective symptoms were assessed with the chi-square test. Treatment options in our sample included watchful waiting, surgical resection and stereotactic radiosurgery. Overall, 17 patients (16.5%) pursued surgical resection via the retrosigmoid approach, 3 patients (2.9%) were treated with gamma knife stereotactic radiosurgery and 83 patients (80.6%) underwent watchful waiting. The decision-making process for AN treatment was based on size of tumor, age, and hearing loss; a statistically significant difference was found at Z test about size of tumor and PTA of patients that underwent retrosigmoid surgery. No statistically significant difference was found at chi-square test between the type of treatment and symptoms (p=0.719). The analysis of the data showed that the main elements taken into consideration for surgery were the size of tumor (p<0.000004) and, secondly, the PTA threshold; the latter may be due to the fact that patients with bigger tumors had greater hearing impairment (p<0.001). Disease progression influenced the therapeutic decision making with a positive correlation between tumor progression and surgery (p<0.001). In our sample, active surveillance was the most adopted option for small tumor, slow growth and old age. Microsurgical resection was the preferred treatment in patients with large tumors, hearing deterioration and rapid growth. Stereotactic radiation has been proposed in a few cases of elderly patients with slow growing tumor and mild hearing loss.
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PMID:What factors influence treatment decision making in acoustic neuroma? Our experience on 103 cases. 3320 94


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