Recessive Spinocerebellar Ataxia with Paroxysmal Cough Attacks: A Report of Five Cases
| العنوان: | Recessive Spinocerebellar Ataxia with Paroxysmal Cough Attacks: A Report of Five Cases |
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| المؤلفون: | Raúl Aguilera-Rodríguez, César M Cerecedo-Zapata, Marla R. Trujillo-Bracamontes, Ana M. Cortés-Rubio, Roberto Rodríguez-Labrada, Oscar Hernández-Hernández, Bulmaro Cisneros, Lourdes Galicia-Polo, Yaimeé Vázquez-Mojena, Luis Velázquez-Pérez, Rigoberto González-Piña, Jonathan J. Magaña |
| المصدر: | The Cerebellum. 13:215-221 |
| بيانات النشر: | Springer Science and Business Media LLC, 2013. |
| سنة النشر: | 2013 |
| مصطلحات موضوعية: | Male, Cerebellum, Pathology, medicine.medical_specialty, Neurology, Ataxia, Polysomnography, Choreiform movement, Audiology, medicine, Humans, Spinocerebellar Ataxias, Genetic Testing, Restless legs syndrome, Aged, Cerebellar ataxia, business.industry, Brain, Syndrome, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Pedigree, medicine.anatomical_structure, Cough, Spinocerebellar ataxia, Female, Cerebellar atrophy, Neurology (clinical), Atrophy, medicine.symptom, business |
| الوصف: | Hereditary ataxias are a heterogeneous group of neurological diseases characterized by progressive cerebellar syndrome and numerous other features, which result in great diversity of ataxia subtypes. Despite the characterization of a number of both autosomal dominant and autosomal recessive ataxias, it is thought that a large group of these conditions remains to be identified. In this study, we report the characterization of five patients (three Mexicans and two Italians) who exhibit a peculiar form of recessive ataxia associated with coughing. The main clinical and neurophysiological features of these patients include cerebellar ataxia, paroxysmal cough, restless legs syndrome (RLS), choreic movements, atrophy of distal muscles, and oculomotor disorders. Brain magnetic resonance imaging (MRI) revealed cerebellar atrophy, while video polysomnography (VPSG) studies showed a severe pattern of breathing-related sleep disorder, including sleep apnea, snoring, and significant oxygen saturation in the absence of risk factors. All patients share clinical features in the peripheral nervous system, including reduction of amplitude and prolonged latency of sensory potentials in median and sural nerves. Altogether, clinical criteria as well as molecular genetic testing that was negative for different autosomal dominant and autosomal recessive ataxias suggest the presence of a new form of recessive ataxia. This ataxia, in which cerebellar signs are preceded by paroxysmal cough, affects not only the cerebellum and its fiber connections, but also the sensory peripheral nervous system and extracerebellar central pathways. |
| تدمد: | 1473-4230 1473-4222 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7dfcf2e62a89f1e10c618e9dc37e80b https://doi.org/10.1007/s12311-013-0526-3 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....a7dfcf2e62a89f1e10c618e9dc37e80b |
| قاعدة البيانات: | OpenAIRE |
Find this article in full text from Springer Verlag. | تدمد: | 14734230 14734222 |
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