COVID-19 Impacts the Mental Health and Speech Function in Spinocerebellar Ataxia Type 2: Evidences from a Follow-Up Study.

Limited evidence suggests that the SARS-CoV-2 infection can accelerate the progression of neurodegenerative diseases, but this has been not verified in the spinocerebellar ataxias (SCA). The objective of this study is to assess the impact of COVID-19 on the mental health and motor features of SCA2. A follow-up study was carried out in 170 Cuban SCA2 subjects and 87 community controls between 2020 and 2021. All subjects underwent a structured questionnaire to assess the risks of exposure to COVID-19, the confirmation of COVID-19 diagnosis, and the Hospital Anxiety and Depression Scale (HADS). Moreover, 36 subjects underwent the Scale for the Assessment and Rating of ataxia (SARA). The risk of exposure to SARS-CoV-2 and the frequency of COVID-19 were similar between the ataxia cohort and the community controls. Within the ataxia group, significantly increased HADS scores existed at the 2nd visit in both groups, but this increase was more evident for the infected group regarding the depression score. Moreover, a significant within-group increase of SARA score was observed in the infected group but not the non-infected group, which was mainly mediated by the significant increase of the speech item score in the infected group. Similar results were observed within the subgroup of preclinical carriers. Our study identified no selective vulnerability nor protection to COVID-19 in SCA2, but once infected, the patients experienced a deterioration of mental health and speech function, even at preclinical disease stage. These findings set rationales for tele-health approaches that minimize the detrimental effect of COVID-19 on SCA2 progression and identify SCA2 individuals as clinical model to elucidate the link between SARS-CoV-2 infection and neurodegeneration.

Impacts of the COVID-19 Pandemic on the Mental Health and Motor Deficits in Cuban Patients with Cerebellar Ataxias.

Although there are no convincing evidences of detrimental effect of SARS-CoV2 infection on the cerebellum, the COVID-19 pandemic could impact the life quality of patients with cerebellar ataxias, but few studies have addressed this concern. To assess the motor and mental health changes caused by the COVID-19 pandemics in Cuban patients with cerebellar ataxias, three hundred four patients with cerebellar ataxias and 167 healthy controls were interviewed for risks of exposure to COVID-19, and the self-perception of the pandemics' impact on the disease progression and on the mental health. All subjects underwent the Hospital Anxiety and Depression Scale. The patients reported low exposition to SARS-CoV2 infection, but one case was confirmed with a mild COVID-19. Overall, depressive and anxiety symptoms were significantly and marginally increased in patients, respectively, with higher scores in cases with severe and moderate ataxia. Positive patient's impression of psychopathological changes was associated to increased age, age at onset, and anxiety. Sixty-seven patients had a positive self-perception of ataxia progression, which was mainly influenced by higher anxiety scores but not by the adherence to at-home exercise programs. However, the practice of physical exercise was related with lower depression and anxiety scores, but this therapeutical effect was not significantly influenced by the disease stage. We demonstrated the negative effect of the COVID-19 pandemic on the mental and motor deficits in Cuban patients with cerebellar ataxias and the positive effect of the at-home physical exercise programs on their mental well-being. These findings give rationales to develop tele-medicine approaches to minimize these health impacts and to study the long-term effects of such sequelae and accordingly define their treatments.

Hereditary Ataxias in Cuba: A Nationwide Epidemiological and Clinical Study in 1001 Patients.

The prevalence estimations of hereditary ataxias are biased since most epidemiological studies are confined to isolated geographical regions and few nationwide studies are available. The study aims to assess the prevalence, distribution, and neurological features of the Cuban population with hereditary ataxias. A nationwide epidemiological study of hereditary ataxias was conducted in Cuba between March 2017 and June 2018. Patients were scheduled at the Cuban ataxia research center, various hospitals, or at their homes. Demographic and clinical variables were obtained through standardized questionnaires and validated clinical tools. Overall, 1001 patients were diagnosed with hereditary ataxias for a nationwide prevalence of 8.91 cases/100.000 inhabitants. Spinocerebellar ataxia type 2 (SCA2) was the commonest subtype, with highest prevalences at Holguín province (47.86/100.000), and a broad dissemination in the whole country. Most of neurological features were common between all SCA cohorts, but the frequencies of some of them varied between distinct subtypes. Within the SCA2 cohort, significant influences of long mutation size and higher disease duration over the muscle atrophy and oculomotor disorders were observed. Besides, higher disease durations were associated with resting tremor and dysphagia, whereas shorter disease durations were associated with hyperreflexia. The spreading of SCA2 to whole country and the documented raising of its prevalence set the rationales for higher-scope medical care and research strategies, supported in collaborative research networks. The wide epidemiological, clinical, and genetic characterization of this founder SCA2 population identifies this homogeneous cohort as an attractive source for the development of future clinical-genetic and therapeutic researches.

Cefalea desencadenada exclusivamente por la risa, como forma de presentación de un meningioma de fosa posterior / Headache triggered exclusively by laughing, as a presenting symptom of a posterior fossa meningioma

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Algunos apuntes sobre la historia de la Neurología en Santiago de Cuba / Some notes on the history of Neurology in Santiago de Cuba

Los inicios de la Neurología en Cuba se remontan a principios del siglo XIX, pero su definición como especialidad independiente se debió fundamentalmente a la intensa labor asistencial, docente e investigativa del profesor José Rafael Estrada González. Un hito importante fue la creación en 1962 del Instituto de Neurología y Neurocirugía. En la provincia de Santiago de Cuba los primeros neurólogos comenzaron a trabajar en la década de los 70 y a partir de 1983 se inició la docencia de posgrado. En estos años transcurridos se ha consolidado el trabajo docente, asistencial e investigativo de la especialidad, plenamente integrada a todos los programas y tareas del sistema de salud en el país.

The onset of Neurology in Cuba go back to the beginning of the XIX century, but its definition as independent specialty was mainly due to the intense assistance, educational and investigative work of professor José Rafael Estrada González. An important landmark was the creation of the Neurology and Neurosurgery Institute in 1962. In the province of Santiago de Cuba the first neurologists began to work in the 70´s and since 1983 the postgrade teaching began. During those years the educational, assistance and investigative work of the specialty has consolidated, fully integrated to all programs and tasks of the health system in the country.

Descripción cinemática de la marcha en pacientes con ataxia espinocerebelosa de tipo 2 / Biomechanical phenomenum description of gait in patients with type 2 spinocerebellar ataxia

Se realizó un estudio descriptivo y transversal de 23 pacientes con diagnóstico clínico, neurológico y genético de ataxia espinocerebelosa de tipo 2, atendidos en la consulta de Neurogenética del Hospital General Docente "Dr. Juan Bruno Zayas Alfonso" de Santiago de Cuba, desde enero de 2013 hasta diciembre de 2015, a fin de obtener un grupo reducido de parámetros espaciotemporales de la marcha en dichos pacientes, mediante la técnica videográfica. También se incluyó una muestra de 35 individuos sanos mayores de 18 años, escogidos al azar. Se observaron diferencias significativas entre las variables cinemáticas extraídas de la evaluación de la marcha de sujetos enfermos y sanos. El método utilizado permitió determinar que el tiempo de evolución de la enfermedad influye en la disminución de la velocidad de marcha y que aumenta el ancho de paso y las oscilaciones de la cadera

A descriptive and cross-sectional study of 23 patients with clinical, neurological and genetic diagnosis of type 2 spinocerebellar ataxia, assisted in the Neurogenetic Service of "Dr. Juan Bruno Zayas Alfonso" Teaching General Hospital in Santiago de Cuba, was carried out from January, 2013 to December, 2015, in order to obtain a reduced group of gait spacetemporal parameters in these patients, by means of the videographic technique. A sample of 35 healthy individuals over 18 years chosen at random, was also included. Significant differences between the biomechanical phenomenum variables extracted from the evaluation of gait in sick and healthy people were observed. The method used allowed to determine that the course of the disease influences in the decrease of gait speed and increases the step width and the hip oscillations

Descripción cinemática de la marcha en pacientes con ataxia espinocerebelosa de tipo 2 / Biomechanical phenomenum description of gait in patients with type 2 spinocerebellar ataxia

Se realizó un estudio descriptivo y transversal de 23 pacientes con diagnóstico clínico, neurológico y genético de ataxia espinocerebelosa de tipo 2, atendidos en la consulta de Neurogenética del Hospital General Docente Dr Juan Bruno Zayas Alfonso de Santiago de Cuba, desde enero de 2013 hasta diciembre de 2015, a fin de obtener un grupo reducido de parámetros espaciotemporales de la marcha en dichos pacientes, mediante la técnica videográfica. También se incluyó una muestra de 35 individuos sanos mayores de 18 años, escogidos al azar. Se observaron diferencias significativas entre las variables cinemáticas extraídas de la evaluación de la marcha de sujetos enfermos y sanos. El método utilizado permitió determinar que el tiempo de evolución de la enfermedad influye en la disminución de la velocidad de marcha y que aumenta el ancho de paso y las oscilaciones de la cadera(AU)

A descriptive and cross-sectional study of 23 patients with clinical, neurological and genetic diagnosis of type 2 spinocerebellar ataxia, assisted in the Neurogenetic Service of Dr Juan Bruno Zayas Alfonso Teaching General Hospital in Santiago de Cuba, was carried out from January, 2013 to December, 2015, in order to obtain a reduced group of gait spacetemporal parameters in these patients, by means of the videographic technique. A sample of 35 healthy individuals over 18 years chosen at random, was also included. Significant differences between the biomechanical phenomenum variables extracted from the evaluation of gait in sick and healthy people were observed. The method used allowed to determine that the course of the disease influences in the decrease of gait speed and increases the step width and the hip oscillations(AU)

Neurofibromatosis de tipo 1 en un adulto joven / Neurofibromatosis type1 in a young adult

Se describe el caso clínico de un paciente de 29 años de edad, con antecedentes familiares de neurofibromatosis, quien comenzó a notar la presencia de tumores blandos subcutáneos, no dolorosos, diseminados en el tronco y en las 4 extremidades, asociados a dolor radicular y parestesias, dificultad para la marcha, así como atrofia muscular en los miembros superiores. Los resultados del examen físico neurológico y de la biopsia permitieron diagnosticar esta afección(AU)

The case report of a 29 year-old patient with a family history of neurofibromatosis who began to notice the presence of subcutaneous soft, unpainful, disseminated tumors in the trunk and in the 4 limbs, associated with radicular pain and paresthesias, difficult walking, as well as muscle atrophy in the upper limbs is described. The results of the neurological physical examination and of biopsy allowed to diagnose this disorder(AU)

Neurofibromatosis de tipo 1 en un adulto joven / Neurofibromatosis type1 in a young adult

Se describe el caso clínico de un paciente de 29 años de edad, con antecedentes familiares de neurofibromatosis, quien comenzó a notar la presencia de tumores blandos subcutáneos, no dolorosos, diseminados en el tronco y en las 4 extremidades, asociados a dolor radicular y parestesias, dificultad para la marcha, así como atrofia muscular en los miembros superiores. Los resultados del examen físico neurológico y de la biopsia permitieron diagnosticar esta afección.

The case report of a 29 year-old patient with a family history of neurofibromatosis who began to notice the presence of subcutaneous soft, unpainful, disseminated tumors in the trunk and in the 4 limbs, associated with radicular pain and paresthesias, difficult walking, as well as muscle atrophy in the upper limbs is described. The results of the neurological physical examination and of biopsy allowed to diagnose this disorder.

Meningoencefalitis letal por criptococosis en una mujer de mediana edad / Lethal meningoencephalitis due to cryptococcosis in a middle-age woman

Se describe el caso clínico de una paciente de 55 años de edad, con aparente buen estado de salud hasta 6 meses antes de fallecer, quien comenzó a presentar cefalea crónica, que no mejoraba con el tratamiento, trastornos de la personalidad, confusión, neuropatía craneal, papiledema y coma profundo, sin respuesta al tratamiento antifúngico. Teniendo en cuenta los resultados del examen del líquido cefalorraquídeo se le diagnosticó una meningoencefalitis por Cryptococcus; asimismo el estudio anatomopatológico corroboró la existencia de criptococosis sistémica y sida.

The case report of a 55 year-old patient is described, with apparent good health up to 6 months before death who began to present chronic migraine which did not improve with treatment, personality disorders, confusion, cranial neuropathy, papilloedema and deep coma, without response to antifungal treatment. Keeping in mind the results of cerebrospinal liquid examination, a meningoencephalitis due to Cryptococcus was diagnosed; likewise the pathological study corroborated the existence of systemic cryptococcosis and AIDS.

Meningoencefalitis letal por criptococosis en una mujer de mediana edad / Lethal meningoencephalitis due to cryptococcosis in a middle-age woman

Se describe el caso clínico de una paciente de 55 años de edad, con aparente buen estado de salud hasta 6 meses antes de fallecer, quien comenzó a presentar cefalea crónica, que no mejoraba con el tratamiento, trastornos de la personalidad, confusión, neuropatía craneal, papiledema y coma profundo, sin respuesta al tratamiento antifúngico. Teniendo en cuenta los resultados del examen del líquido cefalorraquídeo se le diagnosticó una meningoencefalitis por Cryptococcus; asimismo el estudio anatomopatológico corroboró la existencia de criptococosis sistémica y sida(AU)

The case report of a 55 year-old patient is described, with apparent good health up to 6 months before death who began to present chronic migraine which did not improve with treatment, personality disorders, confusion, cranial neuropathy, papilloedema and deep coma, without response to antifungal treatment. Keeping in mind the results of cerebrospinal liquid examination, a meningoencephalitis due to Cryptococcus was diagnosed; likewise the pathological study corroborated the existence of systemic cryptococcosis and AIDS(AU)

Morbilidad por trastornos del movimiento en la consulta de Neurología / Morbidity due to movement disorders in the Neurology Department

Se realizó un estudio observacional, descriptivo y transversal de 175 pacientes con trastornos del movimiento que asistieron a la Consulta de Neurología del Hospital General Docente Dr. Juan Bruno Zayas Alfonso desde el 2007 hasta el 2010, con vistas a describir la morbilidad en estos. Dichas afecciones iniciaron durante la quinta y sexta décadas de la vida en la mayoría de los integrantes de la casuística, con una frecuencia superior de la enfermedad de Parkinson, el temblor esencial y las distonías, y prevalencia del sexo masculino y el color de la piel mestizo. La electromiografía de los músculos agonistas y antagonistas evidenció el predominio del temblor de reposo y la disfunción en la inhibición recíproca, sobre todo en la enfermedad de Parkinson(AU)

An observational, descriptive and cross-sectional study of 175 patients with movement disorders who attended the Neurology Department in Dr Juan Bruno Zayas Alfonso Teaching General Hospital was carried out from 2007 to 2010, aimed at describing the morbidity in them. These disorders began during the fifth and sixth decades of life in most of the members of the case material, with a higher frequency of Parkinson disease, the essential tremor and dystonias, and prevalence of the male sex and half-bred skin. The electromyography of the agonistic and antagonistic muscles evidenced the prevalence of the rest tremor and the disorder in the reciprocal inhibition, mainly in the Parkinson disease(AU)

Morbilidad por trastornos del movimiento en la consulta de Neurología / Morbidity due to movement disorders in the Neurology Department

Se realizó un estudio observacional, descriptivo y transversal de 175 pacientes con trastornos del movimiento que asistieron a la Consulta de Neurología del Hospital General Docente "Dr. Juan Bruno Zayas Alfonso" desde el 2007 hasta el 2010, con vistas a describir la morbilidad en estos. Dichas afecciones iniciaron durante la quinta y sexta décadas de la vida en la mayoría de los integrantes de la casuística, con una frecuencia superior de la enfermedad de Parkinson, el temblor esencial y las distonías, y prevalencia del sexo masculino y el color de la piel mestizo. La electromiografía de los músculos agonistas y antagonistas evidenció el predominio del temblor de reposo y la disfunción en la inhibición recíproca, sobre todo en la enfermedad de Parkinson.

An observational, descriptive and cross-sectional study of 175 patients with movement disorders who attended the Neurology Department in "Dr. Juan Bruno Zayas Alfonso" Teaching General Hospital was carried out from 2007 to 2010, aimed at describing the morbidity in them. These disorders began during the fifth and sixth decades of life in most of the members of the case material, with a higher frequency of Parkinson disease, the essential tremor and dystonias, and prevalence of the male sex and half-bred skin. The electromyography of the agonistic and antagonistic muscles evidenced the prevalence of the rest tremor and the disorder in the reciprocal inhibition, mainly in the Parkinson disease.

Neuropatía hanseniana en una adulta joven / Hansenian neuropathy in a young adult

Se presenta el caso de una paciente de 27 años de edad, sin previos antecedentes, que en el período de puerperio comenzó a presentar deterioro neurológico progresivo, dificultad para la marcha, graves trastornos sensitivos, del tipo de las parestesias y artralgias, pérdida de la sensibilidad propioceptiva, al tacto, al dolor, a la temperatura y en zonas dístales de miembros inferiores, además de manchas violáceas en tórax, abdomen y rodillas. En la muestra para biopsia se encontró un patrón inflamatorio compatible con lepra lepromatosa(AU)

The case of a 27 year-old patient without previous history is reported, who in the puerperium began to present with progressive neurological deterioration, difficult walking, serious sensitive conditions such as paresthesia and arthralgia, loss of the proprioceptive sensibility to the tact, pain, temperature and in distal areas of inferior extremities besides violaceuos plaques in thorax, abdomen and knees. In the biopsy sample an inflammatory pattern consistent with lepromatous leprosy was found(AU)

Neuropatía hanseniana en una adulta joven / Hansenian neuropathy in a young adult

Se presenta el caso de una paciente de 27 años de edad, sin previos antecedentes, que en el período de puerperio comenzó a presentar deterioro neurológico progresivo, dificultad para la marcha, graves trastornos sensitivos, del tipo de las parestesias y artralgias, pérdida de la sensibilidad propioceptiva, al tacto, al dolor, a la temperatura y en zonas dístales de miembros inferiores, además de manchas violáceas en tórax, abdomen y rodillas. En la muestra para biopsia se encontró un patrón inflamatorio compatible con lepra lepromatosa.

The case of a 27 year-old patient without previous history is reported, who in the puerperium began to present with progressive neurological deterioration, difficult walking, serious sensitive conditions such as paresthesia and arthralgia, loss of the proprioceptive sensibility to the tact, pain, temperature and in distal areas of inferior extremities besides violaceuos plaques in thorax, abdomen and knees. In the biopsy sample an inflammatory pattern consistent with lepromatous leprosy was found.