[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.

[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.

[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.

[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.

[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.

[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.

[Edvard Munch: disease and genius of the great Norwegian artist]. / Edvard Munch: enfermedad y genialidad en el gran artista noruego.

Edvard Munch is one the most transcendental artists of all times. His work is innovative in terms of reflecting the grief, sadness, loneliness and the impact of death in human beings as no one did it before. Behind his work it is possible to find many clues given by Munch himself of the reason of his creativity: a childhood surrounded by death and sorrow, and the development of an affective disorder that led him to alcoholism and many hospitalizations due to psychotic episodes. In this review, we analyze Munch's life and his disease that undoubtedly contributed to his great artistic legacy.

[Guy de Maupassant: medical aspects of his lustful and creative life]. / Guy de Maupassant: aspectos médicos de su creativa y desenfrenada vida.

BACKGROUND: The French writer Guy de Maupassant is considered one of the most important story-tellers of all times. In his short life, he produced relevant works which are full of interesting medical descriptions, as sleep palsy and unconscious memory, depicted on his famous tale The Horla. Furthermore, many of his novels and tales contain precise and very insightful descriptions of physicians, many of whom he contacted because of suffering severe migraine. Maupassant became psychotic on his last years as a result of neurosyphilis and died in an asylum. In this review, we analyze some medical aspects of his intense life and provide references of unknown medical descriptions in his works.

[William Wilkie Collins: medicine as an aid for enriching the creation of fiction literature]. / William Wilkie Collins: la medicina como un medio para enriquecer la creación de la literatura de ficción.

William Wilkie Collins (WWC) is a well-known prolific and innovative English writer of the Victorian age. After 150 years he is still being extensively read and all his main works are translated into Spanish. Furthermore, WWC has been acclaimed by famous writers such as JL Borges and TS Eliot as one of the best story-tellers of all times, and a master of the complexities of the plot of stories. WWC mentioned on his works many innovator aspects of medicine, demonstrating an uncanny power of observation and real interest in science. Notoriously, WWC described posttraumatic epilepsy, the clinical effects of opium, the introduction of people with sensorial deficits, such as blindness and deafness, as main figures in his novels. WWC also showed an interest in the management of mental disorders and the use of music as a potential therapy. In this review, we comment these interesting aspects of the creative work of this genius of the fiction literature.

[Jonathan Swift's scientific contribution on his "Gulliver's Travels"]. / Jonathan Swift y su contribución científica en "Los viajes de Gulliver"

Jonathan Swift is one of the most celebrated satirist writers in literature. His well-known "Gulliver's Travels", apart from being a serious human being criticism, contains many interesting ana unrecognized comments about medical and other scientific facts. Swift made what seems to be the first account of a dementing illness in the elderly; his description fits well with what we now know as Alzheimer's disease. He also described a condition now called synaesthesia, a very interesting phenomenon that may contribute to creativity. In this paper, we review aspects of his life and reveal these amazing descriptions as samples of Swift's extraordinary power of observation.

[Meningomyelitis associated with infection by human herpes virus 7: report of two cases]. / Meningomielitis asociadas a infección por herpes virus humano 7: Comunicación de dos casos.

Human herpesvirus 7 (HHV-7) may cause encephalomyelitis in immune competent adults. We report two patients infected by the virus. A 34-year-old male presenting with paraparesis and a sensitive deficiency located in D6 dermatome. Cerebrospinal fluid had 35 white blood cells per mm³ and 75 mg protein per dl. A PCR-microarray examination was positive for HHV-7. The patient was treated with prednisolone and ganciclovir with full recovery. A 27-year-old male presenting with headache, fever and diarrhea. Cerebrospinal fluid analysis showed 160 cells per mm³ and 75 mg protein per dl. Viral RNA detection was positive for HHV-7. The patient was managed with analgesia and rest and was discharged with the diagnosis of viral meningitis. Our communication supports the notion that HHV-7 may be considered as pathogen factor in humans, even in immune competent ones.

[Semmelweis and his outstanding contribution to medicine: washing hands saves lives]. / Semmelweis y su aporte científico a la medicina: Un lavado de manos salva vidas.

Ignaz Semmelweis was a Hungarian obstetrician who in the nineteenth century, preceding the discoveries of Pasteur and Lister, proposed the infectious etiology of puerperal sepsis. With a simple antiseptic procedure, he achieved marked reduction of the prevalence of this disease. However, he needed to fight against the reluctance of his colleagues who didn't accept his observations although they were, for the first time in the history of science, supported by statistical significance analysis. This report describes biographical data of this revolutionary physician and the circumstances of his strange death based on information not often revealed.

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

Presentamos dos pacientes no relacionados con ataxia cerebelosa de inicio tardío asociada con neuropatía y tos seca de larga data. Un paciente tenía dos hermanos afectados con neuropatía sensorial y tos. Ambos probandos tuvieron investigaciones extensas que incluyó pruebas genéticas negativas para las ataxias más comunes, así como pruebas paraneoplásicas y otras causas inmunológicas. Ambos pacientes mostraron una expansión intrónica anormal en el pentanucleótido AAGGG del gen RFC1. Esta etiología se informa como causa frecuente de ataxia de inicio en adultos; la presencia de tos puede conducir al diagnóstico correcto.

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.