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Velazquez-Perez L.,Center for the Research and Rehabilitation of Hereditary Ataxias | Rodriguez-Labrada R.,Center for the Research and Rehabilitation of Hereditary Ataxias | Cruz-Rivas E.M.,Clinical Surgical Hospital Lucia Iniguez | Fernandez-Ruiz J.,National Autonomous University of Mexico | And 13 more authors.
Cerebellum | Year: 2014

The prodromal phase of spinocerebellar ataxias (SCAs) has not been systematically studied. Main findings come from a homogeneous SCA type 2 (SCA2) population living in Cuba. The aim of this study was to characterize extensively the prodromal phase of SCA2 by several approaches. Thirty-seven non-ataxic SCA2 mutation carriers and its age- and sex-matched controls underwent clinical assessments, including standardized neurological exam, structured interviews and clinical scales, and looking for somatic and autonomic features, as well as a neuropsychological battery, antisaccadic recordings, and MRI scans. Main clinical somatic features of non-ataxic mutation carriers were cramps, sensory symptoms, sleep disorders, and hyperreflexia, whereas predominating autonomic symptoms were pollakiuria/nocturia, constipation, and frequent throat clearing. Cognitive impairments included early deficits of executive functions and visual memory, suggesting the involvement of cerebro-cerebellar-cerebral loops and/or reduced cholinergic basal forebrain input to the cortex. Antisaccadic task revealed impaired oculomotor inhibitory control but preserved ability for error correction. Cognitive and antisaccadic deficits were higher as carriers were closer to the estimated onset of ataxia, whereas higher Scale for the Assessment and Rating of Ataxia (SARA) scores were associated most notably to vermis atrophy. The recognition of early features of SCA2 offers novel insights into the prodromal phase and physiopathological base of the disease, allowing the assessment of its progression and the efficacy of treatments, in particular at early phases when therapeutical options should be most effective. © 2014, Springer Science+Business Media New York. Source


Velazquez-Perez L.,Center for the Research and Rehabilitation of the Hereditary Ataxias | Gonzalez-Pina R.,National Rehabilitation Institute INR | Rodriguez-Labrada R.,Center for the Research and Rehabilitation of the Hereditary Ataxias | Aguilera-Rodriguez R.,Center for the Research and Rehabilitation of the Hereditary Ataxias | And 8 more authors.
Cerebellum | Year: 2014

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. © 2013 Springer Science+Business Media. Source


Gomez-Coello A.,National Rehabilitation Institute INR | Valadez-Jimenez V.M.,National Rehabilitation Institute INR | Cisneros B.,CINVESTAV | Carrillo-Mora P.,INR | And 3 more authors.
Journal of Voice | Year: 2016

Background/Objectives: Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease caused by the expansion of a cytosine-adenine-guanine triplet located in the coding region of the ATXN7 gene, which is characterized by cerebellar ataxia, pigmentary macular degeneration, and dysarthria. Although dysarthria is a common feature in various SCA, its clinical characterization has been barely approached. Patients/Methods: In this study, we report, to our knowledge for the first time, a detailed voice analysis in a large series of patients with SCA7, using different vocal parameters, including jitter, shimmer, and fundamental frequency. Patients were molecularly diagnosed using fluorescent-based polymerase chain reaction and capillary electrophoresis, and clinically characterized using the Scale for the Assessment and Rating of Ataxia and the Inventory of Non-Ataxia Symptoms. Results: We found altered jitter, shimmer, and fundamental frequency measurements in patients with SCA7 compared with control subjects (P < 0.05). However, voice impairment was found unrelated with both age at disease onset and size of the cytosine-adenine-guanine triplet tract. Remarkably, jitter and shimmer measurements of patients were found to correlate with their Inventory of Non-Ataxia Symptoms, but not with their Scale for the Assessment and Rating of Ataxia scores, implying that voice impairment is the result of extra-cerebellar manifestations of the disease. Conclusions: We propose that deficiency of the extra-cerebellar component of SCA7 might lead to sudden changes in laryngeal muscle tone, producing instability in sustained vowel phonation. Clinical characterization of voice will help to discriminate SCA7 from other SCA and to guide vocal therapy treatments. © 2016 The Voice Foundation. Source


Magana J.J.,National Rehabilitation Institute INR | Tapia-Guerrero Y.S.,National Rehabilitation Institute INR | Tapia-Guerrero Y.S.,National Polytechnic Institute of Mexico | Velazquez-Perez L.,Center for Research and Rehabilitation of the Hereditary Ataxias | And 8 more authors.
Clinical Genetics | Year: 2014

Spinocerebellar ataxias (SCA) are a heterogeneous group of neurodegenerative disorders. CAG (cytosine-adenine-guanine) trinucleotide repeat expansions in the causative genes have been identified as the cause of different SCA. In this study, we simultaneously genotyped SCA1, SCA2, SCA3, SCA6, and SCA7 applying a fluorescent multiplex polymerase chain reaction assay. We analyzed 10 families with SCA (64 patients) from five different communities of Veracruz, a Mexican southeastern state, and identified 55 patients for SCA7 and 9 for SCA2, but none for SCA1, SCA3, or SCA6. To our knowledge, this sample represents one of the largest series of SCA7 cases reported worldwide. Genotyping of 300 healthy individuals from Mexican population and compiled data from different ethnicities showed discordant results concerning the hypothesis that SCA disease alleles arise by expansion of large normal alleles. © 2014 John Wiley & Sons A/S. Source


Soriano-Rosales R.E.,Autonomous University of Mexico City | Soriano-Rosales R.E.,National Pediatric Institute INP | Perez-Guille B.E.,National Pediatric Institute INP | Arch-Tirado E.,National Rehabilitation Institute INR | And 10 more authors.
ASAIO Journal | Year: 2014

This study evaluated a polylactic and polyglycolic acid (PLA/PGA) implant as a partial tracheal substitute in young developing canines. This experimental and longitudinal study included local stray pups that received substitution of a short cervical tracheal segment with a PLA 85%/PGA 15% plaque. We measured clinical, endoscopic, and tomographic variables for 1 year, at which time we performed histomorphological evaluations of the implant using light and electron microscopy. There were no adverse events throughout the clinical progression. On endoscopic evaluation, the implant was covered with mucosal tissue beginning in the first month, without granulation or stenosis, and the circular shape of the trachea was altered. Tomographic images of the tracheal area at the implant site were similar to adjacent healthy areas (p = 0.423). At the end of the follow-up period, the plaque had biodegraded, and the space was covered by pseudostratified epithelium and ciliated cells similar to the neighboring tissue. Implantation of a PLA/PGA plaque constituted an effective (functional) replacement of a short semicircular cervical tracheal segment without limiting the growth of the recipient. Additional studies are required to prove the efficacy of these implants for larger tracheal segment replacements and in subjects at different stages of development. © 2014 by the American Society for Artificial Internal Organs. Source

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