Apraxia of Eyelid Opening and Blepharospasm in Two Spinocerebellar Ataxia Type 3 Patients.

BACKGROUND: Neuroophthalmological phenotypical particularities of SCA3. PHENOMENOLOGY: Eyelid opening apraxia and asymmetrical blepharospasm. EDUCATIONAL VALUE: To illustrate the phenomenology for purposes of education.

Teaching Video NeuroImages: Posterior Cortical Atrophy Presenting With Balint Syndrome.

We present the case of a 68-year-old woman who developed progressive visuospatial deficits in a period of 18 months, leading to the loss of her independence for activities of daily living. After examination, she showed signs of Balint syndrome with optic ataxia, oculomotor apraxia, and simultanagnosia without visual acuity impairment. After brain imaging showing severe bilateral parieto-occipital association cortex atrophy, a diagnosis of posterior cortical atrophy was made according to the 2017 International Consortium's criteria.

Limb apraxia in aphasic patients.

Limb apraxia is usually associated with left cerebral hemisphere damage, with numerous case studies involving aphasic patients. The aim of this study was to verify the occurrence of limb apraxia in aphasic patients and analyze its nature. This study involved 44 healthy volunteers and 28 aphasic patients matched for age and education. AH participants were assessed using a limb apraxia battery comprising subtests evaluating lexical-semantic aspects related to the comprehension/production of gestures as well as motor movements. Aphasics had worse performances on many tasks related to conceptual components of gestures. The difficulty found on the imitation of dynamic gesture tasks also indicated that there were specific motor difficulties in gesture planning. These results reinforce the importance of conducting limb apraxia assessment in aphasic patients and also highlight pantomime difficulties as a good predictor for semantic disturbances.

Botulinum toxin for treating unilateral apraxia of eyelid opening in a patient with congenital myotonia.

A 37-year-old female presented with severe apraxia of lid opening (ALO) affecting the right upper lid associated with Becker congenital myotonia (MC). The patient had a history of right upper lid ptosis for 25 years that was exacerbated over the previous month with severe incapacity to open her right eye. No other associated neurological or ophthalmic symptoms were observed. The patient was treated with botulinum toxin (BoNT-A) injection into the pretarsal and lateral canthus region of the orbicularis oculi of the affected eyelid. Treatment with BoNT-A is an effective method of managing ALO in Becker MC. This is the first case of unilateral ALO in the course of Becker MC that was successfully treated with injections of botulinum toxin.

Limb apraxia in aphasic patients / Apraxia de membros em indivíduos afásicos

ABSTRACT Limb apraxia is usually associated with left cerebral hemisphere damage, with numerous case studies involving aphasic patients. The aim of this study was to verify the occurrence of limb apraxia in aphasic patients and analyze its nature. This study involved 44 healthy volunteers and 28 aphasic patients matched for age and education. AH participants were assessed using a limb apraxia battery comprising subtests evaluating lexical-semantic aspects related to the comprehension/production of gestures as well as motor movements. Aphasics had worse performances on many tasks related to conceptual components of gestures. The difficulty found on the imitation of dynamic gesture tasks also indicated that there were specific motor difficulties in gesture planning. These results reinforce the importance of conducting limb apraxia assessment in aphasic patients and also highlight pantomime difficulties as a good predictor for semantic disturbances.

RESUMO A apraxia de membros está frequentemente associada com lesões do hemisfério esquerdo, com inúmeros casos de pacientes afásicos. O objetivo deste estudo foi verificar a ocorrência da apraxia de membros em pacientes afásicos bem como a natureza desse distúrbio. O estudo foi realizado com 28 indivíduos afásicos e 44 controles pareados segundo a idade e a escolaridade. Todos os participantes foram avaliados com uma extensa bateria de apraxia de membros, consistindo de subtestes que avaliaram a compreensão e a produção dos aspectos léxico-semânticos relacionados aos gestos bem como produção motora propriamente dita. Os pacientes afásicos apresentaram dificuldades em tarefas envolvendo aspectos conceptuais da produção gestual. A dificuldade encontrada na imitação de gestos dinâmicos também indicou déficits no processamento gestual independente do déficit conceptual observado nestes pacientes. Esses resultados reforçam a importância da avaliação da apraxia de membros e apontam para a dificuldade de realização de pantomimas como indicativa de déficits semânticos.

Botulinum toxin for treating unilateral apraxia of eyelid opening in a patient with congenital myotonia / Tratamento da apraxia de abertura palpebral unilateral em portador de miotonia congênita com botulinum toxin

ABSTRACT A 37-year-old female presented with severe apraxia of lid opening (ALO) affecting the right upper lid associated with Becker congenital myotonia (MC). The patient had a history of right upper lid ptosis for 25 years that was exacerbated over the previous month with severe incapacity to open her right eye. No other associated neurological or ophthalmic symptoms were observed. The patient was treated with botulinum toxin (BoNT-A) injection into the pretarsal and lateral canthus region of the orbicularis oculi of the affected eyelid. Treatment with BoNT-A is an effective method of managing ALO in Becker MC. This is the first case of unilateral ALO in the course of Becker MC that was successfully treated with injections of botulinum toxin.

RESUMO Trata-se de uma mulher de 37 anos apresentando grave apraxia de abertura da pálpebra (AAP) superior direita associada com miotomia congênita de Becker (MC). A paciente há 25 anos apresentava ptose palpebral a direita e há um mês desenvolveu incapacidade de abertura do olho direito. Não havia associação com outro sintoma neurológico ou oftalmológico. A paciente recebeu injeção de botulinum toxin (BoNT-A) no músculo orbicular a direita, na região pretarsal e no canto lateral. A BoNT-A foi efetiva para o tratamento da AAP associada com miotomia congênita de Becker.

[Determinants of psychomotor performance in schoolchildren from Barranquilla, Colombia]. / Determinantes del desempeño psicomotor en escolares de Barranquilla, Colombia.

OBJECTIVE: To establish the prevalence of the psychomotor profile in children aged four to eight years attending the schools of the North Historical Center of Barranquilla, Colombia. METHOD: A cross-sectional descriptive study was conducted in 755 students from public and private schools aged between 4 and 8 years. The motor profile was measured by Da Fonseca Psychomotor Battery. RESULTS: An increased risk for apraxic-dyspraxic performance of the global praxis subfactor was observed in schoolchildren aged four to five years [OR 4.8; 95 % CI; 3.3-7.1] who study in public schools [OR 4.4; 95 % CI; 2.7-7.3], in those classified in the socioeconomic in strata 1, 2 and 3 [OR 2.4; 95 % CI; 1.5-3.9], and in those with an increased weight [OR 2; 95 % CI; 1.2-3.3]. The highest risk for apraxic-dyspraxic performance correlated to public school students [OR 1.9; 95% CI; 1.3-2.8] aged between four and five [OR 3.7; 95 % CI; 2.7-5.3]. The apraxic-dyspraxic performance in the structuring of the temporal space subfactor was higher in girls [OR 1.6; 95 % CI; 1.1- 2.2], in schoolchildren aged four to five [OR 4.8; 95 % CI; 3.3-7.1], in students of public schools [OR 1.9; 95 % CI; 2.7- 5.3], and in children classified in the socioeconomic strata 1, 2 and 3 [OR 1.6; 95 % CI; 1.1-2.7]. CONCLUSIONS: Determinants such as studying in public schools, nutritional status, gender and socioeconomic stratum are related to motor performance in students.

OBJETIVO: Establecer la prevalência del perfil psicomotriz en niños de cuatro a ocho años de edad de los colegios de la localidad Norte Centro Histórico de la ciudad de Barranquilla. MÉTODO: Estudio descriptivo de corte transversal realizado en 755 estudiantes de cuatro a ocho años de edad de colegios oficiales y privados. El perfil motriz se midió mediante la Batería Psicomotora (BPM) de Da Fonseca. RESULTADOS: Existe mayor riesgo para un desempeño apráxico-dispráxico del subfactor praxia global para los escolares de cuatro a cinco años [OR 4,8; IC 95 %; 3,3-7,1] que estudian en colegios oficiales [OR 4,4; IC 95 %; 2,7-7,3]; los que viven en estrato 1, 2 y 3 [OR 2,4; IC 95 %; 1,5-3,9] y quienes tienen un peso aumentado [OR 2; IC 95 %; 1,2-3,3]. El mayor riesgo para un desempeño apráxico-dispráxico en praxia fina fue los participantes de cuatro a cinco años de edad [OR 3,7; IC 95 %; 2,7-5,3], para los estudiantes de colegios oficiales [OR 1,9; IC 95 %; 1,3-2,]. Un desempeño apráxico-dispráxico en el subfactor estructuración espacio temporal es mayor en las niñas [OR 1,6; IC 95 %; 1,12,2], para los escolares de cuatro a cinco [OR 4,8; IC 95 %; 3,3-7,1]; en los que estudian en el sector oficial [OR 1,9; IC 95 %; 2,7-5,3]; para los que residen en estratos socioeconómicos 1, 2 y 3 [OR 1,6; IC 95 %; 1,1-2,7]. CONCLUSIONES: Los determinantes como estudiar en colegios del sector oficial, estado nutricional, género y estrato socioeconómico están relacionados con el desempeño motor de los estudiantes.

[Mental simulation in frontotemporal dementia]. / Simulación mental en Demencia Frontotemporal.

There is a common network for perception and execution of actions necessary for the acquisition of Theory of Mind, and the mirror neuron system could be the neural substrate. OBJECTIVE: To study the presence of apraxia and their relationship to Theory of Mind in patients with behavioral variant of Frontotemporal Dementia. METHODS: 24 patients were assessed, and the cognitive praxis assessment battery and theory of mind were administered. RESULTS: All the tasks of the cognitive praxis assessment battery showed a significant correlation with the first order False Believe task, while Faces Test showed correlations with all the battery tasks except Auditory verbal income. Significant correlations were also found between Reading the Mind in the Eyes and Income of visual objects and Imitation of familiar gestures, and between Faux Pas and Use of tools, Gestural decision and Naming by function. DISCUSSION: These findings reinforce the hypothesis that the processes of Theory of Mind are based, according to mental simulation theory, in a matching execution/observation of actions system, whose neural substrate may correspond to the mirror neuron system.

Speech and orofacial apraxias in Alzheimer's disease.

BACKGROUND: Alzheimer's disease (AD) affects not only memory but also other cognitive functions, such as orientation, language, praxis, attention, visual perception, or executive function. Most studies on oral communication in AD focus on aphasia; however, speech and orofacial apraxias are also present in these patients. The aim of this study was to investigate the presence of speech and orofacial apraxias in patients with AD with the hypothesis that apraxia severity is strongly correlated with disease severity. METHODS: Ninety participants in different stages of AD (mild, moderate, and severe) underwent the following assessments: Clinical Dementia Rating, Mini-Mental State Examination, Lawton Instrumental Activities of Daily Living, a specific speech and orofacial praxis assessment, and the oral agility subtest of the Boston diagnostic aphasia examination. RESULTS: The mean age was 80.2 ± 7.2 years and 73% were women. Patients with AD had significantly lower scores than normal controls for speech praxis (mean difference=-2.9, 95% confidence interval (CI)=-3.3 to -2.4) and orofacial praxis (mean difference=-4.9, 95% CI=-5.4 to -4.3). Dementia severity was significantly associated with orofacial apraxia severity (moderate AD: ß =-19.63, p= 0.011; and severe AD: ß =-51.68, p < 0.001) and speech apraxia severity (moderate AD: ß = 7.07, p = 0.001; and severe AD: ß =8.16, p < 0.001). CONCLUSION: Speech and orofacial apraxias were evident in patients with AD and became more pronounced with disease progression.

Phonological error analysis of acquired speech apraxia.

BACKGROUND: the phonological characterization of the errors present in the speech of individuals with speech apraxia can elucidate several aspects of this disorder and consequently lead to the development of effective therapeutic interventions. Generally, studies that have characterized the errors present in speech apraxia were developed in other languages other than the Brazilian Portuguese (BP). The existing national literature about this theme is based on these studies. AIM: to present the phonological analysis of the errors present in the speech of individuals with speech apraxia, speakers of the BP language. METHOD: 20 adults with speech apraxia were evaluated. The analysis of phonological errors, such as substitution and omission was made. RESULTS: a few of the most affected phonemes in the speech of apraxic individuals (/b/, /lambda / e /3 /), speakers of the BP language, were different from those usually described in international studies. CONCLUSION: results suggest that the errors present in the speech of apraxic individuals can suffer the influence of language once the most frequent errors found in the present study were different from those described in the international literature.

Análise fonológica dos erros da apraxia adquirida de fala / Phonological error analysis of acquired speech apraxia

TEMA: a caracterização fonológica dos erros presentes na fala do indivíduo com apraxia de fala pode fornecer dados para uma melhor compreensão deste distúrbio e, conseqüentemente, para o desenvolvimento de propostas terapêuticas. Em geral, os estudos que analisam fonologicamente a fala do indivíduo com apraxia de fala são internacionais e a literatura nacional que aborda esse distúrbio da fala se baseia nestes trabalhos. OBJETIVO: realizar análise fonológica dos erros presentes na fala do indivíduo com apraxia de fala, falante do Português, falado no Brasil. MÉTODO: participaram do estudo 20 adultos com apraxia de fala. Foi realizada análise fonológica dos erros do tipo substituição e omissão, obtidos através do protocolo de avaliação da apraxia verbal e não-verbal. RESULTADOS: alguns dos fonemas mais freqüentemente acometidos pelos erros de fala dos apráxicos falantes da língua portuguesa (/b/, /λ / e /3 /) revelaram diferença dos achados de estudos internacionais. CONCLUSÃO: verificou-se que os erros presentes na fala dos indivíduos com apraxia de fala parecem sofrer interferência específica da língua, uma vez que os fonemas mais freqüentemente produzidos com erro diferiram dos descritos em estudos internacionais.

BACKGROUND: the phonological characterization of the errors present in the speech of individuals with speech apraxia can elucidate several aspects of this disorder and consequently lead to the development of effective therapeutic interventions. Generally, studies that have characterized the errors present in speech apraxia were developed in other languages other than the Brazilian Portuguese (BP). The existing national literature about this theme is based on these studies. AIM: to present the phonological analysis of the errors present in the speech of individuals with speech apraxia, speakers of the BP language. METHOD: 20 adults with speech apraxia were evaluated. The analysis of phonological errors, such as substitution and omission was made. RESULTS: a few of the most affected phonemes in the speech of apraxic individuals (/b/, /λ / e /3 /), speakers of the BP language, were different from those usually described in international studies. CONCLUSION: results suggest that the errors present in the speech of apraxic individuals can suffer the influence of language once the most frequent errors found in the present study were different from those described in the international literature.

[Alterations in the imitation of gestures (conduction apraxia)]. / Alteraciones en la imitacion gestual (apraxia de conduccion).

INTRODUCTION AND AIMS: The aim of this presentation is to report the performance pattern of a patient who suffered ideomotor apraxia with a disorder pattern of the conduction apraxia (CA) type. This clinical picture was originally reported by Ochipa et al. in 1994 as an alteration in the pathway that joins the two lexicons; later, in 2000, Cubelli et al. claimed that there is no evidence for the existence of such a pathway and suggested that the symptoms were due to an alteration affecting the mechanisms governing visuomotor conversion. CASE REPORT: A 51 year old patient who, following a traumatic head injury, presented aphasia and apraxia with 40% errors in the imitation of familiar gestures test, 50% errors in the imitation of non familiar gestures (NFG), 0% errors in the visual admission of objects test and 0% in the tool usage test. The differences between the performance in the imitation tests and in the other tests are statistically significant. Although the patient displayed slight alterations in the gesture decision test (20% mistakes), alterations to the action input lexicon would not account for the patient's performance since there is a significant difference between his performance in the imitation of NFG test and the gesture decision test. Moreover, he did not present alterations in the discrimination of gestures. CONCLUSIONS: From the above, it can be said that the patient seems to present CA due to alterations in the non semantic interlexical pathway and in the perilexical pathway, as originally postulated by Ochipa et al.

[Clinical history in the study of a patient with dementia]. / Anamnesis en el estudio del paciente con demencia.

OBJECTIVES: To carry out a detailed review of the keys to diagnosis of different types of dementia whilst taking a clinical history. DEVELOPMENT: Dementia is a syndrome with many different aetiologies. Correct diagnosis depends on recording data of the history of the dementia, particularly of complaints regarding cognition and behavior. The keys to the clinical history should be based on questions about cognitive disorders, with emphasis on how they started, their evolution and particular form of dysfunction, Although Alzheimer's dementia is the most frequent, this diagnosis should only be made when the other forms of dementia have been ruled out. In this article we describe some of the keys to a good clinical history to facilitate the etiological and differential diagnosis of dementia. CONCLUSIONS: Establishment of a full clinical history is the first and most important step in the diagnosis of dementia and cognitive disorders. On this will depend the plan to be followed to study the aetiology and most suitable treatment. Success or failure in the study of a patient with dementia depends on the quality of the clinical history obtained.

Manifestaçöes neurológicas na insuficiência renal / Neurologic complications in renal failure

Os autores apresentam uma revisäo sobre os efeitos adversos das doenças renais sobre o sistema nervoso. A insuficiência renal afeta o sistema nervoso com elevada frequência. Este artigo aborda aspectos da insuficiência renal aguda e crônica e as manifestaçöes neurológicas, sejam periféricas ou centrais, ocasionadas por esta doença. A uremia, uma consequência metabólica direta da insuficiência renal, pode afetar o sistema nervoso central e periférico. O transplante renal e as drogas imunossupressoras com elevada frequência causam problemas neurológicos no pós-operatório, como: infecçöes, distúrbios linfoproliferativos pós-transplante e distúrbios do movimento secundários ao uso da ciclosporina. A diálise está associada a uma variedade de complicaçöes como: síndrome do desequilíbrio, síndrome diálise-demência, hematoma subdural e encelalopatia de Wernicke. Aspectos importantes da fisiopatologia, manifestaçöes clínicas, investigaçäo e o tratamento dessas complicaçöes também säo revisados neste artigo

Síndrome de Balint. A propósito de un caso / Balint's syndrome. Apropos of a case

Se presenta un paciente con síndrome de Balint secundario a lesiones traumáticas, producidas por un proyectil de arma de fuego. Se comentan las características clínicas del síndrome, las correlaciones anatomotomográficas correspondientes y los modelos de procesamiento cognitivos de la información visual(AU)

Escritura descriptiva en demencia de tipo Alzheimer / Written discourse in dementia of Alzheimer type

En un grupo de pacientes con demencia de tipo Alzheimer se estudia el discurso escrito, pidiéndoles describir una escena completa. A medida que la demencia es más severa aparecen trastornos del contenido, defectos linguísticos y mecánicos. Los defectos mecánicos se refieren a agrafias apráxicas, reduplicaciones y defectos visuoespaciales, que se observan en las demencias más severas. Los defectos linguísticos de la escritura son más frecuentes que los trastornos del lenguaje oral; en los pacientes más avanzados se hace difícil su evaluación por los defectos mecánicos. Con respecto al contenido destaca la paulatina reducción en el número de ideas atingentes, pero también el aumento de ideas secundarias y la aparición de ideas no atingentes

Escritura descriptiva en demencia de tipo Alzheimer / Written discourse in dementia of Alzheimer type

En un grupo de pacientes con demencia de tipo Alzheimer se estudia el discurso escrito, pidiéndoles describir una escena completa. A medida que la demencia es más severa aparecen trastornos del contenido, defectos linguísticos y mecánicos. Los defectos mecánicos se refieren a agrafias apráxicas, reduplicaciones y defectos visuoespaciales, que se observan en las demencias más severas. Los defectos linguísticos de la escritura son más frecuentes que los trastornos del lenguaje oral; en los pacientes más avanzados se hace difícil su evaluación por los defectos mecánicos. Con respecto al contenido destaca la paulatina reducción en el número de ideas atingentes, pero también el aumento de ideas secundarias y la aparición de ideas no atingentes (AU)

La producción de paralexias semánticas en hispanoparlantes / The production of semantic paralexias in spanish speaking patients

Se presenta el caso de un paciente afásico quien muestra una producción inusitada de paralexias semánticas durante la lectura en voz alta de palabras y frases. No hemos encontrado en la literatura ninguna publicación que haga referencia a la producción de este síntoma en pacientes hispanoparlantes. Por el contrario, dada la transparencia del sistema lectográfico español (alta correspondencia grafema/fonema) se ha puesto en duda que las parilexias semánticas y el síndrome aléxico correspondiente (dislexia profunda) puedan presentarse en hispanoparlantes. Nuestro caso desdice esta presunción y permite discutir aspectos relevantes de los modelos neuropsicológicos de la lectura