We present recent advances in the genetics of recurrent vertigo, including familial episodic ataxias, migraneous vertigo, bilateral vestibular hypofunction and Meniere's disease.Although several vestibular disorders are more common within families, the genetics of vestibulopathies is largely not known. Genetic loci and clinical features of familial episodic ataxias have been defined in linkage disequilibrium studies with mutations in neuronal genes KCNA1 and CACNA1A. Migrainous vertigo is a clinical disorder with a high comorbidity within families much more common in females with overlapping features with episodic ataxia and migraine. Bilateral vestibular hypofunction is a heterogeneous clinical group defined by episodes of vertigo leading to progressive loss of vestibular function which also can include migraine. Meniere's disease is a clinical syndrome characterized by spontaneous episodes of recurrent vertigo, sensorineural hearing loss, tinnitus and aural fullness and familial Meniere's disease in around 10-20% of cases. An international collaborative effort to define the clinical phenotype and recruiting patients with migrainous vertigo and Meniere's disease is ongoing for genome-wide association studies.
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http://dx.doi.org/10.2174/138920211797248600 | DOI Listing |
Medicine (Baltimore)
January 2025
Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Iccesi, Cali, Colombia.
Background: Hearing impairment is a prevalent clinical feature in Morquio syndrome (mucopolysaccharidosis IVA or MPS IVA) patients, often presenting in diverse forms: conductive, sensorineural, or a combination known as mixed hearing loss. The mixed form entails a blend of both conductive and sensorineural elements, typically exhibiting a progressive trajectory. This scoping review aimed to comprehensively analyze available evidence pertaining to the pathophysiology, classification, epidemiology, and clinical management of hearing loss in individuals with MPS IVA.
View Article and Find Full Text PDFJ Clin Med
December 2024
Department of Neurosurgery, "Carol Davila" University of Medicine and Pharmacy, 050474 Bucharest, Romania.
: Cerebral cavernous malformations (CCMs), particularly when located in the cerebellum, pose unique clinical challenges due to the risk of hemorrhage and proximity to critical neurovascular structures. Surgical resection is often necessary to prevent further neurological deterioration. This case report describes the management of a symptomatic cerebellar cavernoma, emphasizing the use of microsurgical techniques and long-term follow-up.
View Article and Find Full Text PDFFront Hum Neurosci
December 2024
The First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, China.
Background And Purpose: Vestibular migraine (VM) is a common clinical disorder with a genetic predisposition characterized by recurrent episodes of dizziness/vertigo. Patients often complain of the presence of cognitive dysfunction manifestations such as memory loss, which causes great distress in daily life. In this study, we will explore the characteristics and possible risk factors of VM-related cognitive dysfunction by observing the cognitive function and vestibular function status of VM patients, laying the foundation for further exploration of the mechanisms of VM-related cognitive dysfunction.
View Article and Find Full Text PDFEur Arch Otorhinolaryngol
January 2025
Hospital QuironSalud Infanta Luisa, Seville, Spain.
Comput Biol Med
January 2025
Otolaryngology, Norfolk and Norwich University Hospitals NHS Foundation Trust, Colney Lane, Norwich, NR4 7UY, Norfolk, England, United Kingdom.
Early diagnosis of neurodegenerative diseases, such as Alzheimer's disease, improves treatment and care outcomes for patients. Early signs of cognitive decline can be detected using functional scales, which are written records completed by a clinician or carer, detailing a patient's capability to perform routine activities of daily living. For example, tasks requiring planning, such as meal preparation, are some of the earliest affected by early mild cognitive impairment.
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