RESUMO
Background: Ataxia with oculomotor apraxia (AOA1) is characterized by early-onset progressive cerebellar ataxia with peripheral neuropathy, oculomotor apraxia and hypoalbuminemia and hypercholesterolemia. Case Report: A 23-year-old previously healthy woman presented with slowly-progressive gait impairment since the age of six years. Neurological examination revealed profound areflexia, chorea, generalized dystonia and oculomotor apraxia. Brain MRI revealed mild cerebellar atrophy and needle EMG showed axonal sensorimotor neuropathy. Whole exome sequencing revealed a mutation in the aprataxin gene. Discussion: AOA1 can present with choreoathetosis mixed with dystonic features, resembling ataxia-telangiectasia. This case is instructive since mixed and complex movement disorders is not very common in AOA1. Highlights: Ataxia with oculomotor apraxia type 1 (AOA1) is characterized by early-onset ataxia and oculomotor apraxia caused by variants in the APTX gene.Ataxia is usually not the sole movement abnormality in AOA1.Hyperkinetic movement disorders, especially chorea and dystonia, may occur.Mixed and complex movement disorders is not very common in AOA1.Patients with early-onset ataxia associated with mixed movement disorders should also be investigated for AOA1.
Assuntos
Apraxias/fisiopatologia , Ataxia Cerebelar/congênito , Cerebelo/diagnóstico por imagem , Coreia/fisiopatologia , Distonia/fisiopatologia , Hipoalbuminemia/fisiopatologia , Reflexo Anormal/fisiologia , Apraxias/diagnóstico por imagem , Apraxias/genética , Atrofia , Ataxia Cerebelar/diagnóstico por imagem , Ataxia Cerebelar/genética , Ataxia Cerebelar/fisiopatologia , Doenças Cerebelares/fisiopatologia , Cerebelo/patologia , Proteínas de Ligação a DNA/genética , Eletromiografia , Feminino , Humanos , Hipoalbuminemia/diagnóstico por imagem , Hipoalbuminemia/genética , Proteínas Nucleares/genética , Adulto JovemRESUMO
Background: Hemichorea-hemiballism is a syndrome secondary to different etiologies. Drug-induced hemichorea is a rare syndrome related to selective serotonin reuptake inhibitors. To the best of our knowledge, no previous cases of hemichorea associated with sertraline have been reported. Case Report: A 65-year-old female noticed hemichorea 1 week after initiation of sertraline. After extensive investigations, other causes of hemichorea were excluded. Hemichorea remitted after sertraline withdrawal. Discussion: In our patient, temporal association and the negative clinical assessment supported a diagnosis of likely drug-induced involuntary movement. We hypothesized that enhanced serotonergic transmission in the ventral tegmental area or nigrostriatum may be involved in sertraline-induced hemichorea.
Assuntos
Coreia/etiologia , Discinesia Induzida por Medicamentos/etiologia , Discinesias/etiologia , Inibidores Seletivos de Recaptação de Serotonina/efeitos adversos , Sertralina/efeitos adversos , Idoso , Coreia/diagnóstico por imagem , Coreia/fisiopatologia , Transtorno Depressivo/diagnóstico por imagem , Transtorno Depressivo/tratamento farmacológico , Transtorno Depressivo/fisiopatologia , Diagnóstico Diferencial , Discinesia Induzida por Medicamentos/diagnóstico por imagem , Discinesia Induzida por Medicamentos/fisiopatologia , Discinesias/diagnóstico por imagem , Discinesias/fisiopatologia , Feminino , Humanos , Inibidores Seletivos de Recaptação de Serotonina/uso terapêutico , Sertralina/uso terapêuticoRESUMO
Chorea is an abnormal movement characterized by a continuous flow of random muscle contractions. This phenomenon has several causes, such as infectious and degenerative processes. Chorea results from basal ganglia dysfunction. As the control of the eye movements is related to the basal ganglia, it is expected, therefore, that is altered in diseases related to chorea. Sydenham's chorea, Huntington's disease and neuroacanthocytosis are described in this review as basal ganglia illnesses that can present with abnormal eye movements. Ocular changes resulting from dysfunction of the basal ganglia are apparent in saccade tasks, slow pursuit, setting a target and anti-saccade tasks. The purpose of this article is to review the main characteristics of eye motion in these three forms of chorea.
Assuntos
Coreia/fisiopatologia , Doença de Huntington/fisiopatologia , Neuroacantocitose/fisiopatologia , Movimentos Sacádicos/fisiologia , Gânglios da Base/fisiopatologia , Feminino , Humanos , MasculinoRESUMO
ABSTRACT Chorea is an abnormal movement characterized by a continuous flow of random muscle contractions. This phenomenon has several causes, such as infectious and degenerative processes. Chorea results from basal ganglia dysfunction. As the control of the eye movements is related to the basal ganglia, it is expected, therefore, that is altered in diseases related to chorea. Sydenham’s chorea, Huntington’s disease and neuroacanthocytosis are described in this review as basal ganglia illnesses that can present with abnormal eye movements. Ocular changes resulting from dysfunction of the basal ganglia are apparent in saccade tasks, slow pursuit, setting a target and anti-saccade tasks. The purpose of this article is to review the main characteristics of eye motion in these three forms of chorea.
RESUMO Coreia é um movimento anormal caracterizado pelo fluxo contínuo de contrações musculares ao acaso. Este fenômeno possui variadas causas, como processos infecciosos e degenerativos. A coreia resulta de disfunção dos núcleos da base, os quais estão envolvidos no controle da motricidade ocular. É esperado, então, que esta esteja alterada em doenças com coreia. A coreia de Sydenham, a doença de Huntington e a neuroacantocitose são apresentadas como modelos que têm por característica este distúrbio do movimento, por ocorrência de processos que acometem os núcleos da base. As alterações oculares decorrentes de disfunção dos núcleos da base se manifestam em tarefas de sacadas, perseguição lenta, fixação de um alvo e em tarefas de antissacadas. O objetivo deste artigo é revisar as principais características dos movimentos oculares nestas três formas de coreias.
Assuntos
Humanos , Masculino , Feminino , Movimentos Sacádicos/fisiologia , Coreia/fisiopatologia , Doença de Huntington/fisiopatologia , Neuroacantocitose/fisiopatologia , Gânglios da Base/fisiopatologiaRESUMO
ABSTRACTThe authors present a Brazilian case series of eight patients with idiopathic very-late onset (mean 75.5 years old) cerebellar ataxia, featuring predominantly gait ataxia, associated with cerebellar atrophy.Method: 26 adult patients with a diagnosis of idiopathic late onset cerebellar ataxia were analyzed in a Brazilian ataxia outpatient clinic and followed regularly over 20 years. Among them, 8 elderly patients were diagnosed as probable very late onset cerebellar ataxia. These patients were evaluated with neurological, ophthalmologic and Mini-Mental Status examinations, brain MRI, and EMG.Results: 62.5% of patients were males, mean age was 81.9 years-old, and mean age of onset was 75.5 years. Gait cerebellar ataxia was observed in all patients, as well as, cerebellar atrophy on brain MRI. Mild cognitive impairment and visual loss, due to macular degeneration, were observed in 50% of cases. Chorea was concomitantly found in 3 patients.Conclusion: We believe that this condition is similar the one described by Marie-Foix-Alajouanine presenting with mild dysarthria, associated with gait ataxia, and some patients had cognitive dysfunction and chorea.
RESUMOOs autores apresentam uma série de casos incluindo oito pacientes com ataxia cerebellar de início muito tardio (média de 75,5 anos de idade) apresentando ataxia de marcha, associada à atrofia cerebelar.Método: 26 pacientes adultos com diagnóstico de ataxia cerebelar de início tardio idiopática foram analisados ambulatorialmente e acompanhados regularmente ao longo de 20 anos. Destes, oito pacientes idosos foram diagnosticados como provável ataxia cerebelar início muito tardio. Os pacientes foram submetidos a um exame neurológico completo, avaliação cognitive e oftalmológica assim como ressonância magnética do cérebro e eletroneuromiografia tambem foram realizados.Resultados: 62,5% dos pacientes eram do sexo masculino, com idade média de 81,9 anos, com média de idade de início aos 75,5 anos. Ataxia cerebelar predominante de marcha foi observada em todos os pacientes, bem como, a atrofia cerebelar na ressonância magnética cerebral. Comprometimento cognitivo leve e perda visual, devido à degeneração macular, foram observados em 50% dos casos. Coréia foi encontrada em 3 pacientes.Conclusão: Acreditamos que esta condição é semelhante à descrita por Marie-Foix-Alajouanine apresentando disartria leve, associada a ataxia de marcha, disfunção cognitiva e coréia.
Assuntos
Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Marcha Atáxica/fisiopatologia , Degenerações Espinocerebelares/fisiopatologia , Idade de Início , Atrofia , Brasil , Cerebelo/patologia , Coreia/patologia , Coreia/fisiopatologia , Eletromiografia , Marcha Atáxica/patologia , Imageamento por Ressonância Magnética , Entrevista Psiquiátrica Padronizada , Disfunção Cognitiva/patologia , Disfunção Cognitiva/fisiopatologia , Degenerações Espinocerebelares/patologiaRESUMO
UNLABELLED: The authors present a Brazilian case series of eight patients with idiopathic very-late onset (mean 75.5 years old) cerebellar ataxia, featuring predominantly gait ataxia, associated with cerebellar atrophy. METHOD: 26 adult patients with a diagnosis of idiopathic late onset cerebellar ataxia were analyzed in a Brazilian ataxia outpatient clinic and followed regularly over 20 years. Among them, 8 elderly patients were diagnosed as probable very late onset cerebellar ataxia. These patients were evaluated with neurological, ophthalmologic and Mini-Mental Status examinations, brain MRI, and EMG. RESULTS: 62.5% of patients were males, mean age was 81.9 years-old, and mean age of onset was 75.5 years. Gait cerebellar ataxia was observed in all patients, as well as, cerebellar atrophy on brain MRI. Mild cognitive impairment and visual loss, due to macular degeneration, were observed in 50% of cases. Chorea was concomitantly found in 3 patients. CONCLUSION: We believe that this condition is similar the one described by Marie-Foix-Alajouanine presenting with mild dysarthria, associated with gait ataxia, and some patients had cognitive dysfunction and chorea.
Assuntos
Marcha Atáxica/fisiopatologia , Degenerações Espinocerebelares/fisiopatologia , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Atrofia , Brasil , Cerebelo/patologia , Coreia/patologia , Coreia/fisiopatologia , Disfunção Cognitiva/patologia , Disfunção Cognitiva/fisiopatologia , Eletromiografia , Feminino , Marcha Atáxica/patologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Entrevista Psiquiátrica Padronizada , Degenerações Espinocerebelares/patologiaRESUMO
BACKGROUND: Neuropsychiatric comorbidities are frequent in Sydenham chorea. However, cognitive impairment in Sydenham chorea has not been sufficiently described. The objective of this study was to evaluate expressive and receptive language deficits in adolescents with Sydenham chorea. METHODS: Twenty patients with Sydenham chorea were compared with 20 patients with rheumatic fever without chorea and 20 healthy controls. Participants were matched for age and gender. Participants were assessed with verbal fluency tasks (phonemic and semantic) and with verbal comprehension tasks (Token Test). Patients with Sydenham chorea were also assessed with the Universidade Federal de Minas Gerais Sydenham Chorea Rating Scale. RESULTS: Performance in verbal fluency and in verbal comprehension tasks differed significantly (P < 0.01) among the three groups. Patients with Sydenham chorea performed significantly worse than healthy control group in phonemic and semantic verbal fluency tasks as well as in the Token Test. The group with rheumatic fever also performed worse than healthy controls in phonemic verbal fluency. Severity of motor signs in Sydenham chorea inversely correlated with performance in phonemic verbal fluency (words beginning with letter S, and total sum of words beginning with letters F, A, and S). CONCLUSIONS: Adolescents with Sydenham chorea show difficulties in verbal fluency and in verbal comprehension. Patients with rheumatic fever also have some degree of language impairment. Future studies must investigate language impairment in difference stages of Sydenham chorea (acute, persistent, and remission) and putative biological markers.
Assuntos
Coreia/psicologia , Transtornos da Linguagem , Adolescente , Criança , Coreia/fisiopatologia , Compreensão , Estudos Transversais , Feminino , Humanos , Transtornos da Linguagem/fisiopatologia , Testes de Linguagem , Masculino , Atividade Motora , Febre Reumática/fisiopatologia , Febre Reumática/psicologia , Índice de Gravidade de Doença , FalaRESUMO
Chorea may be secondary to hyperosmolar nonketotic hyperglycemia, but such situation has rarely been described in adolescents, particularly as the initial and single manifestation of type 1 diabetes. We describe a case of a previously healthy 14-year-old girl with sudden onset of choreic movements on her left upper and lower limbs. Brain computed tomography (CT) and magnetic resonance imaging (MRI) revealed an area of hyperdensity/hyperintensity affecting the right striatum. Blood glucose was 349 mg/dL. Despite adequate glucose control, the involuntary movements persisted and haloperidol, later substituted with valproate, was prescribed, with satisfactory but not complete resolution of the chorea. In 2 other occasions, when the patient had an infection and subsequent hyperglycemia, the chorea relapsed. Although not common, hyperglycemia must be considered in the differential diagnosis of acute hemichorea-hemiballismus in children and adolescents, particularly because it is a potentially reversible cause.