[Late-Onset Cerebellar Ataxia with Neuropathy: Uncovering the Role of RFC1 Gene Mutations]. / CANVAS: una nueva etiología de la ataxia del adulto. La asociación con tos orienta al diagnóstico. Comunicación de 2 pacientes.

We report two unrelated patients with late-onset cerebellar ataxia associated with neuropathy and a long-standing dry cough. One patient had two siblings affected with sensory neuropathy and cough. Both probands had extensive investigations including genetics testing negative for most common ataxias as well as testing for paraneoplasic and other immunologic causes. Both patients showed an abnormal intronic expansion in the pentanucleotide AAGGG of the gene RFC1. This etiology is being reported as frequent cause of adult-onset ataxia; the presence of cough may lead to the correct diagnosis.

Hierro intravenoso en la terapia del síndrome de piernas inquietas / Intravenous iron for restless legs syndrome. Report of five cases

Restless legs syndrome (RLS) may severely affect the quality of life of patients. A deficient iron incorporation into the central nervous system has an important role in the pathophysiology of RLS. Severely affected patients may not respond to current therapeutic options. We report a preliminary experience with five patients with severe RLS and low serum ferritin levels who did not improve with oral iron. All were treated with 1 g of intravenous iron carboxymaltose. They experienced a marked improvement in symptoms, evident even during the first week of therapy that had persistent after up to two years of follow-up. A significant change in the RLS severity scale was observed after intravenous iron. Serum ferritin levels increased in all of them. Intravenous iron could be a therapeutic option for patients with severe RLS.

Emilio Zola y la influencia de la Medicina en su obra La Fortuna de los Rougon-Macquart / The influence of medicine in Emile Zola's "Fortune of the Rougon-Macquart"

Emile Zola is one of the greatest writers in universal literature. In his important series of novels called "The Fortune of the Rougon-Macquart", Zola shows a surprising medical knowledge even though he did not have a formal medical education. We highlight not only his outstanding literary talent, but also the scientific relevance of the tremendous contribution to the medical field that can be extracted from his work. In this series, which describe the history of five generations within a large family suffering from neuropsychiatric and general pathologies, Zola emphasizes the hereditary component of several diseases. These observations probably place him as the first novelist who made an explicit emphasis on the power of inheritance in human behavior. He also mentions for the first time several medical aspects that were seldom addressed in the scientific literature of the time, demonstrating the genius of the writer, his outstanding power of observation and the rigorous preparation with which he wrote his work.

[Johann Sebastian Bach's disease and his bizarre english physician]. / La enfermedad de Johann Sebastian Bach y su mediático médico inglés.

Johann Sebastian Bach suffered during the last year of his life of a progressive visual defect despite two operations done by a famous but quite controversial English ocular surgeon of that time. The exact diagnosis of his ocular problems is unclear but cataracts and complicated glaucoma seem the most plausible. A septic complication following the ocular surgery could have weakened Bach's health leading to his death only three months after the last intervention. In this paper diverse less known aspects of Bach's disease and life are reported.

La enfermedad de Johann Sebastian Bach y su mediático médico inglés / Johann Sebastian Bach's disease and his bizarre english physician

Johann Sebastian Bach suffered during the last year of his life of a progressive visual defect despite two operations done by a famous but quite controversial English ocular surgeon of that time. The exact diagnosis of his ocular problems is unclear but cataracts and complicated glaucoma seem the most plausible. A septic complication following the ocular surgery could have weakened Bach's health leading to his death only three months after the last intervention. In this paper diverse less known aspects of Bach's disease and life are reported.

[The influence of medicine in Emile Zola's "Fortune of the Rougon-Macquart"]. / Emilio Zola y la influencia de la Medicina en su obra La Fortuna de los Rougon-Macquart.

Emile Zola is one of the greatest writers in universal literature. In his important series of novels called "The Fortune of the Rougon-Macquart", Zola shows a surprising medical knowledge even though he did not have a formal medical education. We highlight not only his outstanding literary talent, but also the scientific relevance of the tremendous contribution to the medical field that can be extracted from his work. In this series, which describe the history of five generations within a large family suffering from neuropsychiatric and general pathologies, Zola emphasizes the hereditary component of several diseases. These observations probably place him as the first novelist who made an explicit emphasis on the power of inheritance in human behavior. He also mentions for the first time several medical aspects that were seldom addressed in the scientific literature of the time, demonstrating the genius of the writer, his outstanding power of observation and the rigorous preparation with which he wrote his work.

Severo edema inducido por la terapia dopaminérgica en la enfermedad de Parkinson. Caso clínico / Severe leg edema associated with the use of dopaminergic drugs in Parkinson's disease. Report of one case

The main adverse effects of dopaminergic drugs used in Parkinson's disease are hypotension, somnolence, hallucinations and impulse control disorder. Less common is leg edema. We report on a 68-year-old male receiving levodopa and pramipexole consulting for severe leg edema lasting two years, whose etiology was not ascertained with multiple lab tests. This edema subsided substantially when pramipexole was discontinued and the dose of levodopa was increased to treat motor symptoms.

[Abnormal expansion of C9orf72 gene in familial frontotemporal dementia]. / Expansión anormal de hexanucleótido en gen C9orf72 en una familia con demencia frontotemporal y cuadros asociados.

Frontotemporal Dementia (FTD) and Motor Neuron Disease (MND) may share similar pathogenic mechanisms. An abnormal hexanucleotide expansion in C9orf72 gene is the most common genetic abnormality of these conditions and explains their concurrence in the same family. We report a 77-year-old female presenting with non-fluent aphasia leading to mutism and a mild Parkinsonism. A magnetic resonance imaging showed a severe atrophy of frontal and temporal lobes. Several family members of the patient suffered of atypical Parkinsonism, lateral amyotrophic sclerosis and dementia. We identified an abnormal hexanucleotide expansion in the C9orf72 gene in the proband. To the extent of our knowledge, this is the first time that this diagnosis is confirmed in our country. The knowledge of the genetic basis of neuro degenerative disorders improves diagnosis and opens expectatives for future treatments of these disabling conditions.

Expansión anormal de hexanucleótido en gen C9orf72 en una familia con demencia frontotemporal y cuadros asociados / Abnormal expansion of C9orf72 gene in familial frontotemporal dementia

Frontotemporal Dementia (FTD) and Motor Neuron Disease (MND) may share similar pathogenic mechanisms. An abnormal hexanucleotide expansion in C9orf72 gene is the most common genetic abnormality of these conditions and explains their concurrence in the same family. We report a 77-year-old female presenting with non-fluent aphasia leading to mutism and a mild Parkinsonism. A magnetic resonance imaging showed a severe atrophy of frontal and temporal lobes. Several family members of the patient suffered of atypical Parkinsonism, lateral amyotrophic sclerosis and dementia. We identified an abnormal hexanucleotide expansion in the C9orf72 gene in the proband. To the extent of our knowledge, this is the first time that this diagnosis is confirmed in our country. The knowledge of the genetic basis of neuro degenerative disorders improves diagnosis and opens expectatives for future treatments of these disabling conditions.

[Severe leg edema associated with the use of dopaminergic drugs in Parkinson's disease. Report of one case]. / Severo edema inducido por la terapia dopaminérgica en la enfermedad de Parkinson. Caso clínico.

The main adverse effects of dopaminergic drugs used in Parkinson's disease are hypotension, somnolence, hallucinations and impulse control disorder. Less common is leg edema. We report on a 68-year-old male receiving levodopa and pramipexole consulting for severe leg edema lasting two years, whose etiology was not ascertained with multiple lab tests. This edema subsided substantially when pramipexole was discontinued and the dose of levodopa was increased to treat motor symptoms.

Síndrome de piernas inquietas (enfermedad de Willis-Ekbom): seguimiento a largo plazo de una serie de pacientes / Restless legs syndrome: long-term follow-up of a series of patients

Background: Restless legs syndrome (RLS) affects 10% of the general population. Aim: To analyze a series of patients with a minimum follow-up period of four years, treated during an interval of 14 years. Material and Methods: Retrospective analysis of medical records of 200 patients assessed and followed by the authors at a private outpatient clinic. Results: Fifty patients aged 25 to 90 years (34 females), who had a mean follow-up of 6,3 years (range 4-14 years), were selected. Sixty percent responded to therapy that initially consisted in dopamine agonists in 78% of cases. Thirty four percent remained symptomatic and 4% worsened. RLS severity scale improved from an initial score of 19,2 to 12,5 at the last follow-up visit (p < 0.05). Thirty-three patients (66%) experienced an overall worsening of symptoms beyond pretreatment levels during follow-up. The strategies to overcome this augmentation were the change to another agonist, use of ligands such as pregabalin and gabapentin, opioids and iron. Low ferritin was common in most of the patients in whom it was measured (24 of 45 results), mainly in those with augmentation (p < 0,05). Six percent of patients treated with dopamine agonist developed an impulse control disorder. Conclusions: RLS is a treatable condition during a long period of follow-up in most patients. We found a high rate of potentiation at presentation which can be explained by the inadequate use of high doses of dopaminergic agents.

Encefalitis autoinmune por anticuerpos contra el receptor GABA-A: caso clínico / Autoimmune encephalitis induced by antibodies against GABA-A receptor

Among autoimmune encephalitides, a prevalent group are those associated with antibodies against the N-Methyl-D-aspartate receptor, which present with behavior abnormalities, psychosis, seizures and abnormal movements. A new variant, mediated by antibodies against the GABA-A receptor, was recen­tly described. We report a 66-years-old female with this form of encephalitis whose main manifestation was the presence of severe seizures leading to status epilepticus. The patient had a good response to immunomodulatory therapy with intravenous methylprednisolone, azathioprine and anticonvulsants. The laboratory tests initially detected anti-thyroid peroxidase antibodies which lead to the misdiagnosis of Hashimoto Encephalitis, which was ruled out after the detection of antibodies against GABA-A receptor. No malignancy was detected.

[Restless legs syndrome: long-term follow-up of a series of patients]. / Síndrome de piernas inquietas (enfermedad de Willis-Ekbom): seguimiento a largo plazo de una serie de pacientes.

BACKGROUND: Restless legs syndrome (RLS) affects 10% of the general population. AIM: To analyze a series of patients with a minimum follow-up period of four years, treated during an interval of 14 years. MATERIAL AND METHODS: Retrospective analysis of medical records of 200 patients assessed and followed by the authors at a private outpatient clinic. RESULTS: Fifty patients aged 25 to 90 years (34 females), who had a mean follow-up of 6,3 years (range 4-14 years), were selected. Sixty percent responded to therapy that initially consisted in dopamine agonists in 78% of cases. Thirty four percent remained symptomatic and 4% worsened. RLS severity scale improved from an initial score of 19,2 to 12,5 at the last follow-up visit (p < 0.05). Thirty-three patients (66%) experienced an overall worsening of symptoms beyond pretreatment levels during follow-up. The strategies to overcome this augmentation were the change to another agonist, use of ligands such as pregabalin and gabapentin, opioids and iron. Low ferritin was common in most of the patients in whom it was measured (24 of 45 results), mainly in those with augmentation (p < 0,05). Six percent of patients treated with dopamine agonist developed an impulse control disorder. CONCLUSIONS: RLS is a treatable condition during a long period of follow-up in most patients. We found a high rate of potentiation at presentation which can be explained by the inadequate use of high doses of dopaminergic agents.

[Autoimmune encephalitis induced by antibodies against GABA-A receptor]. / Encefalitis autoinmune por anticuerpos contra el receptor GABA-A: Caso clínico.

Among autoimmune encephalitides, a prevalent group are those associated with antibodies against the N-Methyl-D-aspartate receptor, which present with behavior abnormalities, psychosis, seizures and abnormal movements. A new variant, mediated by antibodies against the GABA-A receptor, was recen-tly described. We report a 66-years-old female with this form of encephalitis whose main manifestation was the presence of severe seizures leading to status epilepticus. The patient had a good response to immunomodulatory therapy with intravenous methylprednisolone, azathioprine and anticonvulsants. The laboratory tests initially detected anti-thyroid peroxidase antibodies which lead to the misdiagnosis of Hashimoto Encephalitis, which was ruled out after the detection of antibodies against GABA-A receptor. No malignancy was detected.