Isabel Benavente

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The aim of the study was to enhance our understanding of the pathogenesis of the ataxia of Charlevoix–Saguenay, based on the findings presented herein. Five patients with a molecular diagnosis of this disease underwent clinical, radiological, ophthalmologic and electrophysiological examinations. Five novel mutations, which included nonsense and missense(More)
The aim of this paper has been to obtain normative data for the major components of the visually evoked potentials obtained by flash stimulus (F-PEV) in the newborn, and to analyse the evolution of these responses during the first 24 weeks of life. In order to do so, F-VEP were recorded in 109 normal full-term newborn infants. Fifty-five of these infants(More)
The aim of this work was to investigate the efficacy of the GABAergic drug gabapentin in the treatment of the cerebellar signs caused by cortical cerebellar atrophy (CCA). Ten patients with CCA received gabapentin in single doses of 400 mg in an open-label study; thereafter, daily administration of 900-1,600 mg of gabapentin was continued during at least 4(More)
PURPOSE To present full ophthalmologic examination and retinal nerve fiber layer (RNFL) photographs of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) patients showing significant increases in RNFL thickness compared to healthy subjects, but without myelinated retinal fibers. METHODS The study design was observational case series. Ten(More)
BACKGROUND AND PURPOSE The goal of this work was to investigate the prevalence of epilepsy in adolescence in the province of Huesca, a region situated in the north of Spain, and to compare the findings with other studies. METHODS All patients aged 10-19 with epilepsy on January 2003 residing in this area, were identified from multiple sources. We followed(More)
Two siblings with ataxia with oculomotor apraxia type 2 (AOA2) exhibited electrophysiological findings suggestive of a sensorimotor neuronopathy, and primary ovarian failure was detected in one of them. Genetic analysis disclosed a novel, homozygous frameshift mutation in the senataxin gene, 2755_2756delGT, responsible for a premature stop codon at position(More)
OBJECTIVE To preliminarily compare the efficacy of pregabalin with that of placebo on the cerebellar signs caused by cortical cerebellar atrophy (CCA). A deficiency of gamma-aminobutyric acid (GABA) has been described in the cerebellum in CCA, and pregabalin has been shown to enhance GABA release in rat hippocampus. PATIENTS AND METHODS Two consecutive(More)
A case of adult-onset ataxia-telangiectasia (AT) is presented, with debut at the age of 18 years and survival into the fourth decade. The clinical picture included cerebellar ataxia, distal weakness and hypopalesthesia in the lower limbs, oculomotor apraxia, dysarthria, and conjunctival telangiectasiae. Carcinoembrionic antigen was raised in plasma. MR(More)
The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is considered a neurodegenerative disease caused by mutations in the SACS gene, located on chromosome 13q12.12. It is a syndrome that comprises skeletal, retinal and neurological manifestations, among which feature spasticity, cerebellar ataxia and peripheral neuropathy. Five patients(More)
The objective of this article has been to describe the presence of a sensory neuronopathy in a patient harbouring ataxia with oculomotor apraxia type 2 (AOA2). A 40 year-old woman, born to consanguineous parents, presented with ataxia, decreased vibration sense, areflexia, indifferent plantar responses, preserved muscle volume and strength, and oculomotor(More)