Four unrelated patients presented with a severe sensory ataxic neuropathy in association with dysarthria and chronic progressive external ophthalmoplegia. Electrophysiologic and pathologic studies showed severe axonal loss... more
Four unrelated patients presented with a severe sensory ataxic neuropathy in association with dysarthria and chronic progressive external ophthalmoplegia. Electrophysiologic and pathologic studies showed severe axonal loss disproportionately affecting sensory nerves. Molecular genetic analysis revealed multiple mitochondrial DNA deletions in muscle and peripheral nerve. Sensory ataxic neuropathy may be the predominant and presenting manifestation of a mitochondrial disorder, and a mitochondrial etiology should be included in its differential diagnosis. The triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) may represent a novel mitochondrial disease associated with multiple mitochondrial DNA deletions.
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Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease. At present, there are not curative therapies for ALS. Pathogenic and progression mechanisms suggest the existence of oxidative stress, abnormal intracellular protein... more
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease. At present, there are not curative therapies for ALS. Pathogenic and progression mechanisms suggest the existence of oxidative stress, abnormal intracellular protein aggregation, mitochondrial dysfunction, axonal transport impairment, impairment of trophic support, altered glial cell function, and glutamate excitoxicity. To evaluate therapeutic results with adult stem cell for ALS treatment. Stem cells represent a potential therapeutic strategy, because their biological mechanisms could act on several of the pathogenic mechanisms proposed for ALS. Bone marrow mesenchymal stem cells are especially interesting among adult stem cells. Mesenchymal stem cells can differentiate in all central nervous system cells and potentially replace them. Furthermore, they have immunomodulatory effects, secreting, especially in neuroinflammatory environments, neurotrophic and antiinflammatory factors. Studies in murine models of ALS s...
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A 14-year-old girl with the mitochondrial neurogastrointestinal encephalopathy syndrome had an 8-year history of intestinal pseudoobstruction with abdominal pain, persistent vomiting, gastric and duodenal dilatation, and duodenal... more
A 14-year-old girl with the mitochondrial neurogastrointestinal encephalopathy syndrome had an 8-year history of intestinal pseudoobstruction with abdominal pain, persistent vomiting, gastric and duodenal dilatation, and duodenal diverticulosis. The child appeared chronically malnourished and had severe growth failure. Multisystem involvement was evident with the presence of ptosis, external ophthalmoplegia, muscle wasting, peripheral neuropathy, and diffuse white matter disease seen on magnetic resonance imaging. Lactic acidosis and increased cerebrospinal fluid protein were observed. Mitochondrial enzyme analysis of fresh-frozen skeletal muscle revealed a respiratory chain defect. Molecular genetic studies showed multiple mitochondrial DNA deletions. Pathologic findings in the intestine included atrophy of the external layer of the muscularis propria and an increased number of abnormal-appearing mitochondria in ganglion and smooth-muscle cells. Microvesicular steatosis was observe...
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... (18). Reference strains of Listeria species used are mentioned in the text. Detection of PI-PLC activity. Listeria strains were spot inoculated on TY agar (1% tryptone, 0.5% yeast extract, 1% NaCl, 1% agar) and incubated at 37°C for... more
... (18). Reference strains of Listeria species used are mentioned in the text. Detection of PI-PLC activity. Listeria strains were spot inoculated on TY agar (1% tryptone, 0.5% yeast extract, 1% NaCl, 1% agar) and incubated at 37°C for 24 to 48 h. 2666 Page 2. ...
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ABSTRACT Parkinson disease (PD) is a movement disorder characterized clinically by the variable combination of rigidity, bradykinesia, rest tremor and postural instability. Usually postural instability is a late-onset manifestation and is... more
ABSTRACT Parkinson disease (PD) is a movement disorder characterized clinically by the variable combination of rigidity, bradykinesia, rest tremor and postural instability. Usually postural instability is a late-onset manifestation and is frequently associated with axial manifestations and with a poor prognosis. We report a 67-year-old female with orthostatic tremor as the etiology of her postural instability. The patient was treated with increasing doses of clonazepam, reaching 2 mg/day, and levodopa. There was an improvement of postural instability with a good response of parkinsonian symptoms.
Clinical and Demographical Characteristics of Patients with Medication Overuse Headache in Argentina and Chile: Analysis of Latin American Section of COMOESTAS Project (Continuous Monitoring of Medication Overuse Headache in Europe and Latin America: Development and Standardization of an Alert an...more
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... Report of one case. ENRIQUE AGUILAR 1,2,4 , DEBORA POLLAK 1 , CECILIA NECOCHEA 1 , RICARDO FADIC 1 , CARLOS JURI 1,3. ... [ Links ]. 13. Boroojerdi B, Ferbert A, Foltys H, Kosinski CM, Noth J, Schwarz M. Evidence for a non-orthostatic... more
... Report of one case. ENRIQUE AGUILAR 1,2,4 , DEBORA POLLAK 1 , CECILIA NECOCHEA 1 , RICARDO FADIC 1 , CARLOS JURI 1,3. ... [ Links ]. 13. Boroojerdi B, Ferbert A, Foltys H, Kosinski CM, Noth J, Schwarz M. Evidence for a non-orthostatic origin of orthostatic tremor. ...
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Mitochondrial diseases include myopathies and multisystem disorders. They are characterized by morphologic and biochemical abnormalities of mitochondria. Their genetic characteristics-maternal inheritance, heteroplasmy, mitotic... more
Mitochondrial diseases include myopathies and multisystem disorders. They are characterized by morphologic and biochemical abnormalities of mitochondria. Their genetic characteristics-maternal inheritance, heteroplasmy, mitotic segregation, and threshold effect-are unique. The clinical phenotypes are considerably heterogeneous, but the clinical presentation in many cases is characteristic or suggestive. We review the clinical features of the most prevalent mitochondrial encephalomyopathy syndromes, their molecular genetic basis, isolated clinical symptoms, and uncommon presentations. Molecular genetic diagnosis is available for the common syndromes and has revolutionized their diagnosis. Future therapeutic advances, based on the precise genetic etiology, are anticipated. Mitochondrial dysfunction may be a more frequent pathogenetic mechanism than the prevalence of the classic mitochondrial syndromes would indicate, as there is an association between the accumulation of mitochondrial DNA mutations in postmitotic tissues and neurologic and systemic degenerative diseases.
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Research Interests: Pathology, Electron Microscopy, Skeletal muscle biology, Adolescent, Comparative Study, and 18 morePediatric Neurology, Humans, Child, Female, Muscular Dystrophies, Male, Infant, Differential Diagnosis, Mechanical Stress, Deficiency, Deficit, Neurosciences, Becker Muscular Dystrophy (BMD), Nino, Electron Microscope, Laminin, Neurologic Examination, and Congenital muscular dystrophy
... M. Fanin, DJ Duggan, MP Freda, A. Berardinelli, GA Danieli, A. Barchitta, EP Hoffman, S. Dalla Volta, C. Angelini. (1999) Heart involvement in muscular dystrophies due to sarcoglycan gene mutations. Muscle & Nerve... more
... M. Fanin, DJ Duggan, MP Freda, A. Berardinelli, GA Danieli, A. Barchitta, EP Hoffman, S. Dalla Volta, C. Angelini. (1999) Heart involvement in muscular dystrophies due to sarcoglycan gene mutations. Muscle & Nerve 22:4, 473-479. 16. Leland E. Lim, Kevin P. Campbell. ...
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We report here that denervation of rat extensor digitorum longus, soleus and diaphragm muscle results in an increase of a subset of asymmetric acetylcholinesterase (class II A-forms) in the contralateral muscle, within a few days. This... more
We report here that denervation of rat extensor digitorum longus, soleus and diaphragm muscle results in an increase of a subset of asymmetric acetylcholinesterase (class II A-forms) in the contralateral muscle, within a few days. This observation is interesting because it suggests a specific regulation of one asymmetric enzyme fraction, which is solubilized only in the presence of chelating agents and is thought to reside in the basal lamina.
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The effects of changes in body core temperature (TB) upon the frequency of chemosensory discharges (fx) from one carotid nerve were studied in pentobarbitone anesthetized cats. Raising TB from 35 to 40 degrees C increased fx in some cats,... more
The effects of changes in body core temperature (TB) upon the frequency of chemosensory discharges (fx) from one carotid nerve were studied in pentobarbitone anesthetized cats. Raising TB from 35 to 40 degrees C increased fx in some cats, an effect more commonly seen after contralateral carotid neurotomy. In other animals, the simultaneously increased alveolar ventilation counteracted the above effect. A multiple correlation analysis of global data showed predicted increases in fx in response to raising TB at different CO2 levels.
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Four unrelated patients presented with a severe sensory ataxic neuropathy in association with dysarthria and chronic progressive external ophthalmoplegia. Electrophysiologic and pathologic studies showed severe axonal loss... more
Four unrelated patients presented with a severe sensory ataxic neuropathy in association with dysarthria and chronic progressive external ophthalmoplegia. Electrophysiologic and pathologic studies showed severe axonal loss disproportionately affecting sensory nerves. Molecular genetic analysis revealed multiple mitochondrial DNA deletions in muscle and peripheral nerve. Sensory ataxic neuropathy may be the predominant and presenting manifestation of a mitochondrial disorder, and a mitochondrial etiology should be included in its differential diagnosis. The triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) may represent a novel mitochondrial disease associated with multiple mitochondrial DNA deletions.
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ABSTRACT No abstract is available for this article.
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The aim of this study was to determine whether the sympathetic skin response (SSR) recorded from the big toe is more sensitive than standard SSR recorded from the sole for the detection of sudomotor fiber dysfunction in diabetic... more
The aim of this study was to determine whether the sympathetic skin response (SSR) recorded from the big toe is more sensitive than standard SSR recorded from the sole for the detection of sudomotor fiber dysfunction in diabetic neuropathy. We recorded big toe SSR (SSRBT) and plantar SSR (SSRP) in 17 diabetic patients with non-disabling neuropathy (group A), 13 patients with disabling neuropathy (group B) and 30 age-matched normal controls. With regard to controls, SSRP amplitude was reduced only in group B. In contrast, SSRBT amplitude was reduced in both groups of patients (p<0.0001). In 8 patients in group B, SSRBT was not recordable while the SSRP still persisted. Our results suggest that SS-RBT is a more sensitive test than SSRP in detecting distal sudomotor failure in patients with diabetic neuropathy.
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Understanding muscle cell in disease and health is an unfinished process. Following the lead of Jaime Alvarez, I have had the opportunity of working on two complementary approaches to this field. One is the study of muscle cell surface... more
Understanding muscle cell in disease and health is an unfinished process. Following the lead of Jaime Alvarez, I have had the opportunity of working on two complementary approaches to this field. One is the study of muscle cell surface molecules. Both synaptic muscle molecules, such as the asymmetric form of acetylcholinesterase, and extrasynaptic molecules, such as the extracellular matrix proteoglycans, are regulated by the motor nerve activity. This illustrates one of Jaime's teachings: cell phenotypes are a dynamic process that reflects the influence of other cells (Alvarez, 2001). Proteoglycans have many functions, including growth factor receptors. Studying them in muscular dystrophy will contribute to the comprehension of the muscle regeneration failure, characteristic of this disease. Muscle cells are highly dependent upon energy production, and the mitochondriae produce most of it. These organelles are unique in having their own genome. Mutations in these genes have recently been recognized as the cause of human disease and originally in muscle pathology. The physiopathology of these diseases is summarized here.