Recessive Spinocerebellar Ataxia with Paroxysmal Cough Attacks: A Report of Five Cases
- 6 October 2013
- journal article
- case report
- Published by Springer Science and Business Media LLC in The Cerebellum
- Vol. 13 (2), 215-221
- https://doi.org/10.1007/s12311-013-0526-3
Abstract
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.Keywords
This publication has 31 references indexed in Scilit:
- Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline dataThe Lancet Neurology, 2013
- Sensorimotor circuitry involved in the higher brain control of coughingCough, 2013
- MRI Shows a Region-Specific Pattern of Atrophy in Spinocerebellar Ataxia Type 2The Cerebellum, 2011
- Update on degenerative ataxiasCurrent Opinion in Neurology, 2011
- Ophthalmic Features of Spinocerebellar Ataxia Type 7Journal of Neuro-Ophthalmology, 2009
- INECO Frontal Screening (IFS): A brief, sensitive, and specific tool to assess executive functions in dementia–CORRECTED VERSIONJournal of the International Neuropsychological Society, 2009
- Saccade velocity is reduced in presymptomatic spinocerebellar ataxia type 2Clinical Neurophysiology, 2009
- Cerebellar Ataxia With Spasmodic CoughArchives of Neurology, 2006
- Friedreich's ataxia. Revision of the phenotype according to molecular geneticsBrain, 1997
- Primary glossopharyngeal and vagal afferent projection into the cerebellum in the dog. An experimental study with toluidine blue and silver impregnation methods.1971