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1.
Medicina (B Aires) ; 73(6): 552-4, 2013.
Artigo em Espanhol | MEDLINE | ID: mdl-24356267

RESUMO

Machado-Joseph disease (MJD) is the most frequent dominantly inherited spinocerebellar ataxia. A marked phenotypic variability is a characteristic of this disorder that could involve non-cerebellar presentations. Based on several case reports describing pyramidal dysfunction as the main symptom at onset, a clinical form resembling hereditary spastic paraplegia has been proposed. We report here two further cases of MJD patients whose initial clinical presentation suggested hereditary spastic paraplegia, and a summary of the main findings of previously similar published reports. Our findings lent support to the proposal of a MJD subtype distinguished by a marked pyramidal dysfunction at onset, simulating a clinical picture of hereditary spastic paraplegia.


Assuntos
Doença de Machado-Joseph/genética , Proteínas do Tecido Nervoso/genética , Proteínas Nucleares/genética , Fenótipo , Proteínas Repressoras/genética , Paraplegia Espástica Hereditária/genética , Adulto , Ataxina-3 , Diagnóstico Diferencial , Feminino , Humanos , Doença de Machado-Joseph/diagnóstico , Masculino , Linhagem , Paraplegia Espástica Hereditária/diagnóstico
2.
Medicina (B.Aires) ; Medicina (B.Aires);73(6): 552-554, dic. 2013. ilus, tab
Artigo em Espanhol | BINACIS | ID: bin-130289

RESUMO

La ataxia espinocerebelosa tipo 3 o enfermedad de Machado-Joseph (SCA-3/EMJ) es la forma más frecuente de ataxia espinocerebelosa autosómica dominante. Se caracteriza por una marcada variabilidad fenotípica, pudiendo causar formas no cerebelosas de presentación. En base a algunos casos comunicados, se ha propuesto una forma de presentación clínica similar a la de una paraparesia espástica hereditaria, con la presencia de signos de disfunción piramidal predominantes como la manifestación clínica inicial. Presentamos dos nuevos casos de SCA-3/EMJ con un cuadro clínico inicial sugerente de paraparesia espástica hereditaria y una revisión de los casos clínicos similares previamente informados. Nuestros hallazgos apoyan la propuesta de un subtipo de SCA-3/EMJ caracterizado por la presencia de marcada disfunción piramidal como manifestación inicial, simulando un cuadro clínico de paraparesia espástica hereditaria.(AU)


Machado-Joseph disease (MJD) is the most frequent dominantly inherited spinocerebellar ataxia. A marked phenotypic variability is a characteristic of this disorder that could involve non-cerebellar presentations. Based on several case reports describing pyramidal dysfunction as the main symptom at onset, a clinical form resembling hereditary spastic paraplegia has been proposed. We report here two further cases of MJD patients whose initial clinical presentation suggested hereditary spastic paraplegia, and a summary of the main findings of previously similar published reports. Our findings lent support to the proposal of a MJD subtype distinguished by a marked pyramidal dysfunction at onset, simulating a clinical picture of hereditary spastic paraplegia.(AU)


Assuntos
Adulto , Feminino , Humanos , Masculino , Doença de Machado-Joseph/genética , Proteínas do Tecido Nervoso/genética , Proteínas Nucleares/genética , Fenótipo , Proteínas Repressoras/genética , Paraplegia Espástica Hereditária/genética , Diagnóstico Diferencial , Doença de Machado-Joseph/diagnóstico , Linhagem , Paraplegia Espástica Hereditária/diagnóstico
3.
Medicina (B.Aires) ; Medicina (B.Aires);73(6): 552-554, Dec. 2013. ilus, tab
Artigo em Espanhol | LILACS | ID: lil-708578

RESUMO

La ataxia espinocerebelosa tipo 3 o enfermedad de Machado-Joseph (SCA-3/EMJ) es la forma más frecuente de ataxia espinocerebelosa autosómica dominante. Se caracteriza por una marcada variabilidad fenotípica, pudiendo causar formas no cerebelosas de presentación. En base a algunos casos comunicados, se ha propuesto una forma de presentación clínica similar a la de una paraparesia espástica hereditaria, con la presencia de signos de disfunción piramidal predominantes como la manifestación clínica inicial. Presentamos dos nuevos casos de SCA-3/EMJ con un cuadro clínico inicial sugerente de paraparesia espástica hereditaria y una revisión de los casos clínicos similares previamente informados. Nuestros hallazgos apoyan la propuesta de un subtipo de SCA-3/EMJ caracterizado por la presencia de marcada disfunción piramidal como manifestación inicial, simulando un cuadro clínico de paraparesia espástica hereditaria.


Machado-Joseph disease (MJD) is the most frequent dominantly inherited spinocerebellar ataxia. A marked phenotypic variability is a characteristic of this disorder that could involve non-cerebellar presentations. Based on several case reports describing pyramidal dysfunction as the main symptom at onset, a clinical form resembling hereditary spastic paraplegia has been proposed. We report here two further cases of MJD patients whose initial clinical presentation suggested hereditary spastic paraplegia, and a summary of the main findings of previously similar published reports. Our findings lent support to the proposal of a MJD subtype distinguished by a marked pyramidal dysfunction at onset, simulating a clinical picture of hereditary spastic paraplegia.


Assuntos
Adulto , Feminino , Humanos , Masculino , Doença de Machado-Joseph/genética , Proteínas do Tecido Nervoso/genética , Proteínas Nucleares/genética , Fenótipo , Proteínas Repressoras/genética , Paraplegia Espástica Hereditária/genética , Diagnóstico Diferencial , Doença de Machado-Joseph/diagnóstico , Linhagem , Paraplegia Espástica Hereditária/diagnóstico
4.
Medicina (B.Aires) ; Medicina (B.Aires);73(6): 552-4, 2013.
Artigo em Espanhol | BINACIS | ID: bin-132778

RESUMO

Machado-Joseph disease (MJD) is the most frequent dominantly inherited spinocerebellar ataxia. A marked phenotypic variability is a characteristic of this disorder that could involve non-cerebellar presentations. Based on several case reports describing pyramidal dysfunction as the main symptom at onset, a clinical form resembling hereditary spastic paraplegia has been proposed. We report here two further cases of MJD patients whose initial clinical presentation suggested hereditary spastic paraplegia, and a summary of the main findings of previously similar published reports. Our findings lent support to the proposal of a MJD subtype distinguished by a marked pyramidal dysfunction at onset, simulating a clinical picture of hereditary spastic paraplegia.


Assuntos
Doença de Machado-Joseph/genética , Proteínas do Tecido Nervoso/genética , Proteínas Nucleares/genética , Fenótipo , Proteínas Repressoras/genética , Paraplegia Espástica Hereditária/genética , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Doença de Machado-Joseph/diagnóstico , Masculino , Linhagem , Paraplegia Espástica Hereditária/diagnóstico
5.
107 Emergencia ; 2(6): 24-27, ago. 2004. graf
Artigo em Espanhol | BINACIS | ID: bin-2122

RESUMO

Orientación para el tratamiento y evaluación de pacientes con alteración del sensorio, según cinco aspectos considerados estratégicos, ya que informan sobre cómo se encuentran las estructuras del tronco cerebral: nivel de conciencia, respiración, respuesta motora, motilidad ocular intrínseca, y motilidad ocular extrínseca


Assuntos
Transtornos da Consciência , Transtornos da Consciência/diagnóstico , Transtornos da Consciência/terapia , Inconsciência/diagnóstico , Inconsciência/terapia , Assistência Ambulatorial
6.
107 Emergencia ; 2(6): 24-27, ago. 2004. graf
Artigo em Espanhol | LILACS | ID: lil-403248

RESUMO

Orientación para el tratamiento y evaluación de pacientes con alteración del sensorio, según cinco aspectos considerados estratégicos, ya que informan sobre cómo se encuentran las estructuras del tronco cerebral: nivel de conciencia, respiración, respuesta motora, motilidad ocular intrínseca, y motilidad ocular extrínseca


Assuntos
Assistência Ambulatorial , Transtornos da Consciência , Inconsciência
7.
Medicina [B.Aires] ; 57(3): 270-4, 1997.
Artigo em Inglês | BINACIS | ID: bin-19316

RESUMO

It has been recently recognized that increased titers of serum anti-GM1 antibodies may be associated with motoneurone diseases or with multiple motor neuropathy with or without conduction block and also with chronic sensorimotor neuropathy and Guillain-Barré syndrome. Santoro et al. were the first to note that anti-GM1 antibodies were able to bind to the nodes of Ranvier of the sural nerve of a patient with clinical signs and symptoms mostly resembling amyotrophic lateral sclerosis who also showed, in nerve conduction studies, multifocal motor nerve fibers conduction block and serum IGM anti-GM1 antibodies. The who patients presented in this report had asymetrical motor neurone disease with signs and symptoms of lower motoneurose involvement, and other signs, in the first patient, which suggested the existence of upper motoneurone damage. Besides, the second patient also had clinical sensory impairment in the lower limbs. Electrophysiologically, none of them had nerve conduction block but both showed inexcitable median and sural nerve sensory fibers. Both had high titers of anti-GM1. A sural biopsy of both patients showed immunoglobulins into the sensory fibers. However, we do not know whether the anti-GM1 antibodies bind to a cross-reactive glycolipid other than the GM1 itself. In any case, it seems that the presence of anti-GM1 antibodies might be a marker signalling a potentially treatable immune disorder which may have signs of lower and upper motor neurone disease and, also, clinical and electrophysiological evidence of peripheral sensory involvement. (AU)


Assuntos
Pessoa de Meia-Idade , Humanos , Masculino , Idoso , Doença dos Neurônios Motores/sangue , Doença dos Neurônios Motores/imunologia , Gangliosídeo G(M1)/imunologia , Anticorpos
8.
Medicina (B.Aires) ; Medicina (B.Aires);57(3): 270-4, 1997.
Artigo em Inglês | LILACS | ID: lil-209640

RESUMO

It has been recently recognized that increased titers of serum anti-GM1 antibodies may be associated with motoneurone diseases or with multiple motor neuropathy with or without conduction block and also with chronic sensorimotor neuropathy and Guillain-Barré syndrome. Santoro et al. were the first to note that anti-GM1 antibodies were able to bind to the nodes of Ranvier of the sural nerve of a patient with clinical signs and symptoms mostly resembling amyotrophic lateral sclerosis who also showed, in nerve conduction studies, multifocal motor nerve fibers conduction block and serum IGM anti-GM1 antibodies. The who patients presented in this report had asymetrical motor neurone disease with signs and symptoms of lower motoneurose involvement, and other signs, in the first patient, which suggested the existence of upper motoneurone damage. Besides, the second patient also had clinical sensory impairment in the lower limbs. Electrophysiologically, none of them had nerve conduction block but both showed inexcitable median and sural nerve sensory fibers. Both had high titers of anti-GM1. A sural biopsy of both patients showed immunoglobulins into the sensory fibers. However, we do not know whether the anti-GM1 antibodies bind to a cross-reactive glycolipid other than the GM1 itself. In any case, it seems that the presence of anti-GM1 antibodies might be a marker signalling a potentially treatable immune disorder which may have signs of lower and upper motor neurone disease and, also, clinical and electrophysiological evidence of peripheral sensory involvement.


Assuntos
Pessoa de Meia-Idade , Humanos , Masculino , Anticorpos , Gangliosídeo G(M1)/imunologia , Doença dos Neurônios Motores/sangue , Doença dos Neurônios Motores/imunologia
9.
Arq. neuropsiquiatr ; Arq. neuropsiquiatr;50(4): 539-42, dez. 1992. ilus, tab
Artigo em Espanhol | LILACS | ID: lil-122008

RESUMO

Se describe un paciente de 52 años de edad que presentó 5 tumoraciones subcutaneas adheridas a diferentes nervios periféricos. La anatomía patológica de todas ellas, indicó que se trataba de schwannomas. Una TAC de cerebro demostró una tumoración en lóbulo temporal isquierdo con calcificaciones en su interior, compatible a meningioma. La ausencia de criterios diagnósticos para neurofibromatosis I y II y la característica particular del cuadro, schwannomas múltiples asociados a tumoracíon endocraneana, sugieren el diagnóstico de schwannomatosis


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Neurilemoma/diagnóstico , Neoplasias do Sistema Nervoso Periférico/diagnóstico , Neurilemoma , Neoplasias do Sistema Nervoso Periférico , Tomografia Computadorizada por Raios X
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