Journal Title
Title of Journal: Cerebellum
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Abbravation: The Cerebellum
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Authors: Luis VelázquezPérez Rigoberto GonzálezPiña Roberto RodríguezLabrada Raul AguileraRodríguez Lourdes GaliciaPolo Yaimeé VázquezMojena Ana M CortésRubio Marla R TrujilloBracamontes Cesar M CerecedoZapata Oscar HernándezHernández Bulmaro Cisneros Jonathan J Magaña
Publish Date: 2013/10/06
Volume: 13, Issue: 2, Pages: 215-221
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 breathingrelated 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 pathwaysWe are grateful to the Mexican and Italian patients for the collaboration This work was supported by the Cuban Ministry of Public Health and CONACyT fellowship 203861 to LVP and by the Secretary of Science Technology and Innovation of Distrito Federal grant PICSA12162 to JJM
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