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Resume Introduccion Las ataxias (AT) y paraparesias espasticas hereditarias (PEH) son sindromes neurodegenerativos raros. Nos proponemos conocer la prevalencia de las AT y PEH en Espana en 2019. Pacientes y metodos Estudio transversal, multicentrico, descriptivo y retrospectivo de los pacientes con AT y PEH, desde marzo de 2018 a diciembre de 2019 en toda Espana. Resultados Se obtuvo informacion de 1.809 pacientes procedentes de 11 Comunidades Autonomas, de 47 neurologos o genetistas. Edad media: 53,64 anos ± 20,51 desviacion estandar (DE); 920 varones (50,8%), 889 mujeres (49,2%). En 920 pacientes (47,6%) no se conoce el defecto genetico. Por patologias, 1.371 pacientes (70,9%) diagnosticados de AT, 562 diagnosticados de PEH (29,1%). La prevalencia estimada de AT es 5,48/100.000 habitantes, y la de PEH es 2,24 casos/100.000 habitantes. La AT dominante mas frecuente es la SCA3. La AT recesiva mas frecuente es la ataxia de Friedreich (FRDA). La PEH dominante mas frecuente es la SPG4, y la PEH recesiva mas frecuente es la SPG7. Conclusiones La prevalencia estimada de AT y PEH en nuestra serie es de 7,73 casos/100.000 habitantes. Estas frecuencias son similares a las del resto del mundo. En el 47,6% no se ha conseguido un diagnostico genetico. A pesar de las limitaciones, este estudio puede contribuir a estimar los recursos, visibilizar estas enfermedades, detectar las mutaciones mas frecuentes para hacer los screenings por comunidades, y favorecer los ensayos clinicos.

Monoclonal gammopathy (MG) is reported in 1% of subjects above 50 years of age and in 3% of those above the age of 70. Of all patients with MG, 3% present polyneuropathy (PNP). The abbreviation MGUS (monoclonal gammopathy of undetermined significance) is used to describe a benign proliferation of M component (monoclonal) according to Kyle's criteria, with a potential to be malignant that is indicated by clinical, biochemical and haematological parameters. Aims. The aim of this study was to evaluate the effect of the clinical exacerbation of MGUS associated neuropathy, by referring to the existing literature and to our own experience in order to set out a number of proposals for treatment based on the deterioration of the patient's quality of life.Case 1: a 53 year old female with predominantly sensory sensory motor demyelinating polyradiculoneuropathy, associated to IgG lambda MGUS. Case 2: a 65 year old female with demyelinating sensory motor polyradiculoneuropathy associated to IgM kappa MGUS. In both cases there was a rapidly progressing neurological deterioration and no other data exist to suggest malign lymphoproliferation.In addition to the treatments established for MG linked PNP, which are based on the modulation of the immune response, it has also been proved that when malign proliferation of plasmacytes exists specific treatment of the gammopathy can significantly stabilise or improve the neuropathic symptoms. We propose gammopathy specific haematological treatment in patients who still meet Kyle's criteria for MGUS with a torpid neurological course and scarce response to therapy with immunomodulators, prior to an important deterioration in the quality of life. We also suggest establishing this rapidly progressing clinical course as a criterion that indicates the process of becoming malign as put forward by Eurelings et al.

The term visual neglect refers to a lack of attention to visual stimuli coming from the contralateral hemifield. The patient does not seek objects in the abnormal field and often only sees half of a paragraph when reading. Although the right inferior parietal lobe is the most frequently damaged region, the same symptomatology can be due to injury to the frontal lobe, the basal ganglia and the thalamus.Female aged 71 with a mitral prosthesis and atrial fibrillation in treatment with dicumarols, who presented a left frontal parenchymatous haemorrhage. The exploration revealed right visual hemineglect without ipsilateral homonymous hemianopsia, associated to a right hemiparesis.Even when visual neglect has been described in lesions affecting the parietal lobe, especially on the right hand side, the same symptomatology can be due to injury to the basal ganglia, the thalamus and the frontal lobe. In this last case, it seems that the basis for the pathogenesis lies in the damage done to the underlying white matter, which would disconnect the posterior parietal cortex from the prefrontal cortex.

Korsakoff s psychosis (KP) is a relatively frequent pathological condition in our community that has been infradiagnosed. The most common cause is chronic alcohol consumption, although it can be brought about by other aetiologies accompanied by vitamin deficiencies. The lack of thiamine entails an alteration in the synthesis of neurotransmitters, which provides the neurochemical foundation for the specific cognitive impairment that defines the syndrome.To evaluate the application of pharmacological treatments, in accordance with the neurochemical disorders described in the literature, and report our experience in two cases treated with anticholinesterases.1) Female aged 47, with a history of addiction to alcohol. Following Wernicke s encephalopathy, which improved with parenteral thiamine, she presented a memory disorder compatible with KP. After two months treatment with donepezil, a cognitive improvement was observed in the neuropsychological tests. 2) Male aged 77, who presented KP a month after being diagnosed and treated for a post encephalitic vasculitis caused be varicella zoster virus. His cognitive and functional condition improved after 3 months treatment with donepezil.There are not enough studies in the literature with representative samples that consider the effects of thiamine or of other forms of treatment on cognitive impairment in KP. Noradrenaline, serotonin, glutamate and acetylcholine have been proposed in the pathogeny of the syndrome. Based on experiences gained in cholinergic disorders, two cases responded to treatment with donepezil. Effective treatment must be based on a combination of aetiological and pharmacological treatment, and cognitive rehabilitation.

Introduccion. La gammapatia monoclonal (GM) se describe en el 1% de los sujetos mayores de 50 anos y en un 3% de los mayores de 70 anos. Un 3% de pacientes con GM presentan polineuropatia (PNP). Las siglas MGUS (del ingles, monoclonal gammopathy of undetermined significance) describen una proliferacion benigna de componente M (monoclonal) segun criterios de Kyle, con potencial maligno indicado por parametros clinicos, bioquimicos y hematologicos. Objetivos. Valorar el peso del empeoramiento clinico de la neuropatia asociada a MGUS, referenciandonos a la literatura existente y a nuestra propia experiencia, para establecer unas propuestas de tratamiento sobre la base del deterioro de la calidad de vida del paciente. Casos clinicos. Caso 1: mujer de 53 anos con polirradiculoneuropatia desmielinizante sensitivomotora de predominio sensitivo, asociada a IgG lambda-MGUS. Caso 2: mujer de 65 anos con polirradiculoneuropatia sensitivomotora desmielinizante asociada a IgM kappa-MGUS. En ambos casos existe deterioro neurologico rapidamente progresivo y no existen otros datos sugestivos de linfoproliferacion maligna. Conclusiones. Ademas de los tratamientos establecidos para la PNP asociada a GM, basados en la modulacion de la respuesta inmune, se ha demostrado que, cuando existe proliferacion maligna plasmocitaria, el tratamiento especifico de la gammapatia puede estabilizar o mejorar significativamente la clinica neuropatica. Proponemos tratamientos hematologicos especificos de la gammapatia en pacientes que cumplen todavia criterios de Kyle para MGUS, con curso neurologico torpido y escasa respuesta a tratamientos inmunomoduladores, previos a un deterioro importante de la calidad de vida, y establecer este curso clinico rapidamente progresivo como criterio de malignizacion, al igual que Eurelings et al.

Introduction Korsakoff s psychosis (KP) is a relatively frequent pathological condition in our community that has been infradiagnosed. The most common cause is chronic alcohol consumption, although it can be brought about by other aetiologies accompanied by vitamin deficiencies. The lack of thiamine entails an alteration in the synthesis of neurotransmitters, which provides the neurochemical foundation for the specific cognitive impairment that defines the syndrome. Aims To evaluate the application of pharmacological treatments, in accordance with the neurochemical disorders described in the literature, and report our experience in two cases treated with anticholinesterases. Case reports 1) Female aged 47, with a history of addiction to alcohol. Following Wernicke s encephalopathy, which improved with parenteral thiamine, she presented a memory disorder compatible with KP. After two months treatment with donepezil, a cognitive improvement was observed in the neuropsychological tests. 2) Male aged 77, who presented KP a month after being diagnosed and treated for a post encephalitic vasculitis caused be varicella zoster virus. His cognitive and functional condition improved after 3 months treatment with donepezil. Discussion and conclusions There are not enough studies in the literature with representative samples that consider the effects of thiamine or of other forms of treatment on cognitive impairment in KP. Noradrenaline, serotonin, glutamate and acetylcholine have been proposed in the pathogeny of the syndrome. Based on experiences gained in cholinergic disorders, two cases responded to treatment with donepezil. Effective treatment must be based on a combination of aetiological and pharmacological treatment, and cognitive rehabilitation.

Introduction Tuberculosis continues to be an intensly extended disease in under developed countries in immunodepressed and immunocompetent persons. In the central nervous system tuberculous lesions are the most frequent cause of space occupying lesions. Clinical case We report the case of a young, immunocompetent woman from Guinea, currently living in Spain. Following a seizure, neuro imaging showed there to be a right frontal space occupying lesion. The characteristics of the MR images obtained were fundamental to the determination of the meningeal site of the lesion en plaque and to suggest the aetiology as being an infectious inflammatory process, although a meningioma could not be ruled out. The absence of signs of extracerebral disease, the localization and distribution of the lesion and lack of short term response to medical treatment, which covered the different diagnostic possibilities, made it necessary to do a diagnostic meningeal biopsy. Conclusions MR imaging is a great help in the diagnosis of tuberculous lesions of the central nervous system. The differential diagnosis between tuberculous pachymeningitis and meningioma, both in the form of plaques, is extremely difficult without obtaining a biopsy specimen. The finding of epithelioid granulomas with caseous necrosis and/or acid alcohol fast bacilli in the biopsy specimen is diagnostic of tuberculosis. A single meningeal lesion situated in the cortex but with no associated extracerebral disease causes considerable difficulty in diagnosis. Tuberculosis must always be remembered in view of the increasing number of immigrants from under developed countries.