RESUMO
A right-handed woman developed pseudobulbar palsy and a particular writing disturbance mainly composed of omission of kana letters (OKL) at the age of 79, followed by gradual progression of generalized motor disturbance and mutism. She died at the age of 88. Postmortem examination revealed frontotemporal lobar degeneration. The precentral cortex and premotor area were the most severely degenerated among the affected frontal, parietal, and temporal lobes. The omission of kana letters has been recently reported as a characteristic feature of writing disturbance in Japanese amyotrophic lateral sclerosis (ALS). Our case indicates that OKL is not specific to ALS, and that the prefrontal and precentral cortices, common lesions between our case and ALS, are responsible for OKL. This case also shows that OKL can be caused by a pathomechanism independent from other types of writing error. The neurolinguistic analysis of our case suggests the disturbance of the moraic frame of words in the transcription process of morae into kana letters or kana-letter cards.
Assuntos
Degeneração Lobar Frontotemporal/diagnóstico , Redação , Idoso , Disartria/complicações , Disartria/psicologia , Feminino , Degeneração Lobar Frontotemporal/complicações , Degeneração Lobar Frontotemporal/psicologia , HumanosRESUMO
We describe a Japanese patient with familial amyotrophic lateral sclerosis (ALS) and a p.K510M mutation in the fused in sarcoma gene (FUS). The patient's condition was characterized clinically by an early onset and rapid progression. The patient eventually required mechanical ventilation and progressed to the totally locked-in state. Neuropathologically, multiple system degeneration with many FUS-immunoreactive structures was observed. The involvement of the globus pallidus, subthalamic nucleus, substantia nigra, cerebellar efferent system, and both upper and lower motor neurons in the present patient was comparable to that described for ALS patients with different mutations in FUS, all of whom progressed to the totally locked-in state. However, the patient also exhibited degeneration of the cerebellar afferent system and posterior column. Furthermore, the appearance of non-compact FUS-immunoreactive neuronal cytoplasmic inclusions and many FUS-immunoreactive glial cytoplasmic inclusions were unique to the present patient. These features suggest that the morphological characteristics of the FUS-immunoreactive structures and distribution of the lesions vary with the diversity of mutations in FUS.
Assuntos
Esclerose Lateral Amiotrófica/complicações , Esclerose Lateral Amiotrófica/genética , Encéfalo/patologia , Proteína FUS de Ligação a RNA/genética , Adulto , Esclerose Lateral Amiotrófica/patologia , Progressão da Doença , Humanos , Masculino , Mutação , Linhagem , Quadriplegia/etiologiaRESUMO
A 56-year-old right-handed man suffered from progressive apraxia of speech (AOS), characterized by agrammatism and buccofacial apraxia. He also became mute at the later stages of the disease progression. At autopsy, the left precentral gyrus, pars opercularis, and hippocampus showed severe atrophy. Pick bodies and Pick cells were observed. In this report, we also review previous case reports of AOS. Pick's disease is among the most commonly associated of the major diseases. Brain lesions associated with AOS may be found in regions such as the precentral gyrus and the pars opercularis in the left hemisphere.
Assuntos
Apraxias/etiologia , Doença de Pick/complicações , Distúrbios da Fala/etiologia , Apraxias/patologia , Apraxias/psicologia , Autopsia , Encéfalo/patologia , Lateralidade Funcional/fisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Doença de Pick/patologia , Doença de Pick/psicologia , Distúrbios da Fala/patologia , Distúrbios da Fala/psicologiaRESUMO
We report a novel missense mutation (G37V) in exon 2 of the superoxide dismutase-1 gene in a 63-years-old Japanese male with purely lower motor neuron disease. His disease duration was 14 months, and he died of respiratory failure. The disease in this patient with the G37V mutation showed a rapid progression, although patients with G37R mutation are known to have a long survival.
Assuntos
Esclerose Lateral Amiotrófica/genética , Glicina/genética , Mutação de Sentido Incorreto/genética , Superóxido Dismutase/genética , Valina/genética , Esclerose Lateral Amiotrófica/patologia , Povo Asiático , Autopsia/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas de Neurofilamentos/metabolismo , Superóxido Dismutase-1RESUMO
Possible clinicopathological relationship between vacuolar degeneration of cerebral white matter and clinical manifestation, especially of supranuclear ophthalmoparesis, both infrequent in amyotrophic lateral sclerosis (ALS) patients, was tested. Of 104 ALS sequential series, cases with vacuolar degeneration of the cerebral white matter were selected to yield 14 cases pathologically surveyed in this study. Clinical features were retrospectively assessed in their clinical records. Microscopic examination clarified vacuolar changes with fibrous gliosis, infiltration of macrophages, axonal degeneration with segmental dilatation and partial loss of myelin on electron microscopy. This histological change was extended into the cerebral white matter just under the cortices but sometimes accentuated as restricted areas along the pyramidal tract and precentral regions. In a patient with the most extensive focal lesion, these white matter vacuolar changes were detected with magnetic resonance imaging. The clinical manifestations linked to this focal vacuolar degeneration were disturbance of vertical ocular movements and shorter duration of the illness, compared with patients without vacuolar degeneration. In conclusion, histological demonstration of characteristic vacuolar degeneration in the white matter of ALS and its focal accentuation along precentral-pyramidal tracts are mutually related and possibly linked to clinical manifestations such as supranuclear ophthalmoparesis, an exceptional but possible manifestation of ALS.
Assuntos
Esclerose Lateral Amiotrófica/patologia , Córtex Cerebral/patologia , Fibras Nervosas Mielinizadas/patologia , Músculos Oculomotores/inervação , Oftalmoplegia/patologia , Vacúolos/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Autopsia , Feminino , Gliose/patologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Degeneração Neural/patologia , Músculos Oculomotores/patologia , Músculos Oculomotores/fisiopatologia , Tratos Piramidais/patologia , Estudos Retrospectivos , Vacúolos/ultraestruturaRESUMO
Parkinson's disease is now recognized as a major form of α-synucleinopathy involving both the central and peripheral nervous systems. However, no research has focused on the posterior pituitary lobe (PPL), despite the fact that this organ also plays an important role in systemic homeostasis. In the present study, we aimed to distinguish phosphorylated α-synuclein (pαSyn)-positive deposits in the PPL, as is observed in Lewy body- and non-Lewy body-related disorders. PαSyn deposits were immunohistochemically analyzed using formalin-fixed, paraffin-embedded PPL specimens obtained from 60 autopsy cases. Among the cases with Lewy body-related disorders, PPL pαSyn deposits were observed in almost all cases of Parkinson's disease (22/23), and in one case of dementia with Lewy bodies (1/1). On the other hand, only 3/36 cases of non-Lewy body-related disorders had pαSyn immunoreactivity in the PPL. The present study confirms the presence of pαSyn-positive deposits, as demonstrated by high specificity (97.1%) and sensitivity (88.5%), in both Parkinson's disease and dementia with Lewy bodies, suggesting that this finding can be a useful hallmark of Lewy body-related disorders.
Assuntos
Doença de Parkinson/patologia , Neuro-Hipófise/patologia , alfa-Sinucleína/metabolismo , Idoso , Biomarcadores/análise , Feminino , Humanos , Imuno-Histoquímica , Doença por Corpos de Lewy/metabolismo , Doença por Corpos de Lewy/patologia , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/metabolismo , Fosforilação , Neuro-Hipófise/metabolismo , Sensibilidade e EspecificidadeRESUMO
Amyotrophic lateral sclerosis (ALS) shows peculiar abnormalities of the autonomic nervous system, including sympathetic hyperactivity, which might result in sudden death. In general, the sympathetic hyperactivity could be caused by disruption of vagal inhibition. Our objective was to evaluate the vagus nerve morphometrically in autopsy cases of ALS with sympathetic hyperactivity and circulatory collapse (CC). We investigated 10 autopsied ALS patients, six of whom had exhibited autonomic storms or CC. We also examined 10 patients without ALS as controls, and one patient with Guillain-Barré syndrome (GBS) who died from CC, for comparison. After obtaining the visceral branch of the left vagus nerve at necropsy, we analyzed the density of the myelinated and unmyelinated fibers, and the fiber diameter distribution for each fiber. Results showed that the densities of both myelinated and unmyelinated fibers in ALS patients with or without CC were not significantly different from those in control patients. In contrast, the GBS patient showed marked reduction in the whole myelinated and large unmyelinated fiber density. In conclusion, the autonomic storms or CC due to sympathetic hyperactivity in ALS could not be ascribed to the deafferentation of the baroreflex, and more central neural pathophysiology should be investigated.
Assuntos
Esclerose Lateral Amiotrófica/patologia , Choque/patologia , Nervo Vago/patologia , Idoso , Esclerose Lateral Amiotrófica/complicações , Esclerose Lateral Amiotrófica/fisiopatologia , Pressão Sanguínea/fisiologia , Ritmo Circadiano/fisiologia , Feminino , Frequência Cardíaca/fisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Choque/complicações , Choque/fisiopatologia , Nervo Vago/fisiologiaRESUMO
The hippocampal involvement in amyotrophic lateral sclerosis (ALS) patients has been known for more than a decade, however, its relationship to clinical manifestations including memory deficits and topographical differentiation from Alzheimer disease (AD) remain unclear. In order to clarify the anatomopathological features in the hippocampus and their relevance to disease-specific memory deficits in ALS patients, topography and cytopathology of the hippocampal lesions along the perforant pathway were quantitatively and semiquantitatively surveyed in 14 ALS patients with extramotor involvement. These pathological findings were compared with clinical characteristics assessed from their clinical records. Cytoplasmic inclusions initially appear in the granular cells of the dentate gyrus (DG) and superficial small neurons of the transentorhinal cortex (TEC) with mild subicular degeneration (stage I: inclusion stage). Subsequent gliosis and neuronal loss of the TEC, concomitant with presynaptic degeneration of the outer molecular layer of the DG, suggests an extension of the degeneration through the perforant pathway (stage II: early perforant stage). In a more advanced stage, the presynaptic degeneration is more evident with moderate to severe neuronal loss in the TEC (stage III: advanced perforant stage). This advanced stage was associated with episodic memory deficits mimicking AD in some ALS patients. This ALS pathology initiated by cytoplasmic inclusions and neuronal loss in layer II-III of the TEC is different from neurofibrillary tangles of AD, dominant in layer II-III of the entorhinal cortex. Because this involvement of the TEC-molecular DG projection and subiculum is specific to ALS, it will provide a basis for clinical characterization of memory deficits of ALS, which could be distinct from those of AD.
Assuntos
Doença de Alzheimer/patologia , Esclerose Lateral Amiotrófica/patologia , Hipocampo/patologia , Transtornos da Memória/patologia , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/fisiopatologia , Esclerose Lateral Amiotrófica/fisiopatologia , Autopsia , Demência/patologia , Demência/fisiopatologia , Giro Denteado/patologia , Giro Denteado/fisiopatologia , Progressão da Doença , Córtex Entorrinal/patologia , Córtex Entorrinal/fisiopatologia , Feminino , Hipocampo/fisiopatologia , Humanos , Imuno-Histoquímica , Corpos de Inclusão/metabolismo , Corpos de Inclusão/patologia , Masculino , Transtornos da Memória/fisiopatologia , Pessoa de Meia-Idade , Neurônios Motores/metabolismo , Degeneração Neural/patologia , Degeneração Neural/fisiopatologia , Emaranhados Neurofibrilares/metabolismo , Emaranhados Neurofibrilares/patologia , Neurônios/metabolismo , Neurônios/patologia , Via Perfurante/patologia , Via Perfurante/fisiopatologia , Medula Espinal/metabolismo , Medula Espinal/patologia , Ubiquitina/metabolismo , Proteínas tau/metabolismoRESUMO
In multiple system atrophy (MSA), it has been accepted that the motor-related cortical area may degenerate. However, there have been few investigations of the postcentral cortex of the somatosensory area. For this reason, we investigated the effects of MSA on both the precentral and the postcentral cortex and were able to demonstrate degenerative changes in each. Furthermore, our study showed that degeneration of the postcentral cortex preceded that of the precentral cortex. In addition, we showed that the Betz cells were not selectively lost, but merely depleted like other neurons of the deep cortical layers. Therefore, the effects of MSA are apparently related to selective loss of the small-sized myelinated fibers in the corticospinal tract.
Assuntos
Atrofia de Múltiplos Sistemas/patologia , Córtex Somatossensorial/patologia , Córtex Somatossensorial/fisiopatologia , Antígenos CD/metabolismo , Antígenos de Diferenciação Mielomonocítica/metabolismo , Feminino , Proteína Glial Fibrilar Ácida/metabolismo , Humanos , Masculino , Pessoa de Meia-Idade , Atrofia de Múltiplos Sistemas/fisiopatologia , Degeneração Neural/etiologia , Degeneração Neural/patologia , Córtex Somatossensorial/metabolismo , Estatísticas não Paramétricas , alfa-Sinucleína/metabolismoRESUMO
Degeneration of the perforant pathway, not extensively surveyed so far in amyotrophic lateral sclerosis (ALS) with dementia, was found in eight out of twelve autopsied patients with clinically detectable dementia. Because the severity of degeneration of the entorhinal cortex and that of spongiosis of the outer half of the molecular layer of the dentate gyrus were correlated in these eight patients, it is suspected that the degeneration of the perforant pathway may explain these concomitant lesions. This was further corroborated by occasional involvement of the parahippocampal white matter and subiculum, other components of this pathway. Moreover, six of them manifested clinically detectable memory deficits and three of them exhibited amnesia or episodic memory impairments similar to Alzheimer's disease (AD). Abnormal intensity restricted the dentate gyrus on brain magnetic resonance imaging in a severe case looks like the degeneration of the molecular layer. This involvement of the perforant pathway in ALS patients and its correlation to memory deficits should be taken in account for evaluation of dementia.
Assuntos
Esclerose Lateral Amiotrófica/patologia , Demência/patologia , Hipocampo/patologia , Transtornos da Memória/patologia , Via Perfurante/patologia , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/fisiopatologia , Doença de Alzheimer/psicologia , Esclerose Lateral Amiotrófica/fisiopatologia , Comorbidade , Demência/fisiopatologia , Giro Denteado/patologia , Giro Denteado/fisiopatologia , Progressão da Doença , Córtex Entorrinal/patologia , Córtex Entorrinal/fisiopatologia , Feminino , Hipocampo/fisiopatologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Transtornos da Memória/fisiopatologia , Pessoa de Meia-Idade , Fibras Nervosas Mielinizadas/patologia , Testes Neuropsicológicos , Via Perfurante/fisiopatologia , Valor Preditivo dos TestesRESUMO
BACKGROUND CONTEXT: Hemangiopericytoma is an aggressive tumor associated with high recurrence and metastasis. Metastases are usually delayed, long after diagnosis of the primary lesion. Metastatic hemangiopericytoma to the spinal cord is especially rare. PURPOSE: To report a rare clinical presentation of a metastatic intradural, intramedullary hemangiopericytoma to the cauda equina from a cerebellar hemangiopericytoma. STUDY DESIGN: Case report with a review of the literature. METHODS: Clinical history, physical findings, and magnetic resonance imaging studies of a patient with a metastatic intradural, intramedullary hemangiopericytoma to the cauda equina are reported. RESULTS: A case report is presented of a female with an intradural, intramedullary lesion at the L4-S1 level, presenting initially with progressive pain and motor weakness affecting the left lower extremity. She had a history of a cerebellar hemangiopericytoma, which had been treated with total resection and radiotherapy 4 years earlier. This patient developed urinary urgency and frequency. Pathological analysis revealed a hemangiopericytoma, which had a similar character to a cerebellar lesion. After radiotherapy, the tumor was mostly diminished and her symptoms totally resolved. CONCLUSIONS: Hemangiopericytomas have a strong tendency to both local recurrence and metastasis. Common metastatic sites are the skeletal system, lung, liver, and abdominal cavity. To the authors' knowledge, there have been no reports of spinal intradural, intramedullary metastasis of hemangiopericytoma.
Assuntos
Neoplasias Cerebelares/patologia , Hemangiopericitoma/secundário , Neoplasias do Sistema Nervoso Periférico/secundário , Adulto , Neoplasias Cerebelares/radioterapia , Neoplasias Cerebelares/cirurgia , Feminino , Hemangiopericitoma/terapia , Humanos , Imageamento por Ressonância Magnética , Neoplasias do Sistema Nervoso Periférico/radioterapiaRESUMO
A 60-year-old, right-handed man developed gait disturbance. He also had difficulty in dressing and demonstrated depressive status, but did not have memory impairment. He was diagnosed as having corticobasal degeneration (CBD) because of right cortical atrophy and contralateral movement disorder. He died at the age of 69. The pathological diagnosis was not CBD but Alzheimer's disease. The brain showed severe atrophy, especially in the right superior parietal lobe and postcentral gyrus. The cortical lesion was most marked in the right parietal lobe within the neocortex, and was more severe than that in the limbic area. Clinically this patient was highly suspected to have CBD. This case, however, is categorized into atypical Alzheimer's disease with a focal cortical syndrome.
Assuntos
Doença de Alzheimer/diagnóstico , Doença de Alzheimer/patologia , Autopsia , Gânglios da Base/patologia , Córtex Cerebral/patologia , Idoso , Atrofia , Humanos , Masculino , Doenças Neurodegenerativas/diagnóstico , Doenças Neurodegenerativas/patologiaAssuntos
Esclerose Lateral Amiotrófica/genética , Esclerose Lateral Amiotrófica/patologia , Basófilos/patologia , Corpos de Inclusão/metabolismo , Proteína FUS de Ligação a RNA/genética , Proteína FUS de Ligação a RNA/metabolismo , Fator de Transcrição TFIIIA/metabolismo , Adulto , Esclerose Lateral Amiotrófica/metabolismo , Proteínas de Ciclo Celular , Proteínas de Ligação a DNA/metabolismo , Feminino , Humanos , Corpos de Inclusão/patologia , Masculino , Proteínas de Membrana Transportadoras , Pessoa de Meia-Idade , Superóxido Dismutase/metabolismo , Superóxido Dismutase-1RESUMO
Clinical cases similar to herpes simplex virus (HSV) encephalitis have accumulated in Japan. Detailed examinations have failed to demonstrate HSV infection. Recently, these cases have been named "non-herpetic acute limbic encephalitis". Only a single autopsy case was so far reported in an abstract form, because many cases showed a good prognosis. The case presented here was that following fever, a 59-year-old woman developed disturbance of consciousness and uncontrollable generalized seizures. Brain MRI revealed abnormal signals in the bilateral medial temporal lobe and along the lateral part of the putamen. Autoantibody against the NMDA glutamate receptor (GluR) IgM-epsilon2 was detected in the serum, and the GluR IgG-delta2 antibody was positive in cerebrospinal fluid. She died 12 days after onset. An autopsy examination revealed scattered foci consisting of neuronal loss, neuronophagia and some perivascular lymphocytic infiltration in the hippocampus and amygdala, but no haemorrhagic necrosis in the brain. HSV-1, -2 and human herpes virus-6 were negative immunohistochemically. We believe that our autopsy case may contribute to understanding the neuropathological background of non-herpetic acute limbic encephalitis.
Assuntos
Encefalite Límbica/patologia , Encefalite Límbica/fisiopatologia , Lobo Temporal/patologia , Doença Aguda , Anticorpos/sangue , Anticorpos/líquido cefalorraquidiano , Feminino , Humanos , Encefalite Límbica/imunologia , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Receptores de N-Metil-D-Aspartato/imunologiaRESUMO
Nasogastric tube syndrome named by Sofferman et al in 1981 is a laryngeal complication presenting with life-threatening vocal cord abductor paralysis derived from peroforation of the NG tube-induced esophageal ulcer. As compared with the previously reported cases of this syndrome, our 4 autopsied patients were so peculiar in the following two points that vocal cord abductor paralysis developed repeatedly and no esophageal ulcer was present in spite of the presence of the laryngeal abductor muscle injury. We hypothesized that the etiology of such a variant form was circulatory injury of the laryngeal abductor muscle which was caused by the compression of the postcricoid blood vessels perfusing this muscle. Nasogastric tube syndrome, which is treatable by decannulation, cannot be ruled out even if no esophageal ulcer is detected by fiberoptic laryngoscopy.
Assuntos
Intubação Gastrointestinal/efeitos adversos , Paralisia das Pregas Vocais/etiologia , Idoso , Diagnóstico Diferencial , Evolução Fatal , Feminino , Humanos , Músculos Laríngeos/irrigação sanguínea , Laringoscopia , Masculino , Síndrome , Paralisia das Pregas Vocais/patologiaRESUMO
Multiple system atrophy (MSA) is a neurodegenerative disorder that predominantly affects motor-related neuroanatomic structures. The role of microglia in MSA is unknown. To address this issue, we conducted quantitative image studies on the brains from 13 cases of MSA, comprising 8 cerebellar and 5 parkinsonian variants. Microglial and glial cytoplasmic inclusion (GCI) burdens were determined with image analysis on brain sections immunostained with antibodies to HLA-DR and alpha-synuclein. Many activated microglia, as well as GCIs, were noted in motor-related structures, including the cerebellar input, extrapyramidal motor, and pyramidal motor structures, but not in the cerebellar output structures. This result indicates that microglial activation, as well as the distribution of GCIs, is system-specific in MSA. The correlation analysis between the microglial and GCI burdens yielded variable yet significant correlations in the cerebellar input, extrapyramidal motor, and pyramidal motor systems, but not in the cerebellar output system. This result suggests that microglial activation is at least partly determined by GCIs or oligodendroglial alpha-synuclein in specific neuroanatomic systems affected in MSA. Taken together, considering the known toxic effects of microglia in neurodegenerative diseases, microglia may play a part in the development of system-specific tissue injuries, contributing to the system-bound clinical and pathological phenotypes.
Assuntos
Encéfalo/patologia , Corpos de Inclusão/ultraestrutura , Microglia/patologia , Atrofia de Múltiplos Sistemas/patologia , Idoso , Encéfalo/metabolismo , Feminino , Antígenos HLA-DR/metabolismo , Humanos , Processamento de Imagem Assistida por Computador , Imuno-Histoquímica , Corpos de Inclusão/patologia , Masculino , Microglia/metabolismo , Pessoa de Meia-Idade , Atrofia de Múltiplos Sistemas/metabolismo , Proteínas do Tecido Nervoso/metabolismo , Sinucleínas , alfa-SinucleínaRESUMO
Marinesco bodies (MBs) are ubiquitinated intranuclear inclusions observed in nigral pigmented neurons. They increase in number during aging, and their formation is considered to represent a cellular reaction to stress, but is not always associated with neuronal degeneration. We conducted immunohistochemical studies on MBs abundant in myotonic dystrophy brains and compared their nature with that of neuronal intranuclear inclusions (NIIs) in polyglutamine diseases. First, we examined the relationship between MBs and polyglutamine proteins and demonstrated that one of the polyglutamine proteins, ataxin-3, as well as a 19S proteasomal protein, was preferentially recruited into MBs even in the absence of expanded polyglutamine. This indicates that an alternative mechanism during the formation of MBs that is not related to polyglutamine expansion or neuronal degeneration may recruit ataxin-3 into nuclear inclusions in a protein-specific manner. Secondly, we investigated the relationship between MBs and promyelocytic leukemia protein (PML), a nuclear matrix-associated protein that is normally localized to intranuclear punctate structures (PML nuclear bodies) and is known to reorganize itself in association with polyglutamine aggregation. In nigral pigmented neurons in myotonic dystrophy, spherical, hemispherical or rod-like PML-immunoreactive structures, in addition to punctate structures, were observed in their nuclei. Similar PML redistribution was also observed in nigral pigmented neurons in aged controls and cases of hepatic encephalopathy, 2 other conditions in which abundant MBs are formed. Double immunofluorescence study revealed that these PML-positive structures undergo morphological changes in association with ubiquitin accumulation during MB formation. It is therefore indicated that PML reorganization does not represent a specific nuclear event involved in the pathogenesis of polyglutamine diseases, but may commonly occur during the formation of intranuclear inclusions as a reaction against various stresses that involve the ubiquitin-proteasome pathway.
Assuntos
Núcleo Celular/metabolismo , Corpos de Inclusão/metabolismo , Distrofia Miotônica/metabolismo , Proteínas de Neoplasias/metabolismo , Proteínas do Tecido Nervoso/metabolismo , Neurônios/metabolismo , Proteínas Nucleares , Substância Negra/metabolismo , Fatores de Transcrição/metabolismo , Adulto , Idoso , Ataxina-3 , Encéfalo/metabolismo , Encéfalo/patologia , Núcleo Celular/patologia , Cisteína Endopeptidases/genética , Cisteína Endopeptidases/metabolismo , Feminino , Encefalopatia Hepática/genética , Encefalopatia Hepática/metabolismo , Encefalopatia Hepática/patologia , Humanos , Imuno-Histoquímica , Corpos de Inclusão/patologia , Masculino , Pessoa de Meia-Idade , Complexos Multienzimáticos/genética , Complexos Multienzimáticos/metabolismo , Distrofia Miotônica/genética , Distrofia Miotônica/patologia , Proteínas de Neoplasias/genética , Proteínas do Tecido Nervoso/genética , Neurônios/patologia , Peptídeos/genética , Peptídeos/metabolismo , Proteína da Leucemia Promielocítica , Complexo de Endopeptidases do Proteassoma , Proteínas Repressoras , Estresse Fisiológico/genética , Estresse Fisiológico/metabolismo , Substância Negra/patologia , Fatores de Transcrição/genética , Expansão das Repetições de Trinucleotídeos/genética , Proteínas Supressoras de Tumor , Ubiquitina/genética , Ubiquitina/metabolismoRESUMO
While multiple system atrophy (MSA) is frequently associated with vocal cord paralysis (VCP) causing severe respiratory failure, it is still unknown whether hereditary types of spinocerebellar degeneration develop similar laryngeal paralysis. We analyzed the laryngeal function from the viewpoints of fiberoptic laryngoscopy and laryngeal myopathology and then attempted to clarify the difference of the mechanism of VCP among the patients with spinocerebellar ataxia type 1 (SCA 1), type 3 (SCA 3), and MSA. Seven patients with SCA 1, nineteen with SCA 3, and eleven with MSA were studied. Vocal cord movement was analyzed by fiberoptic laryngoscopy during wakefulness and diazepam-induced sleep (sleep load test). Paraffin-embedded sections or cryosections of the intrinsic laryngeal muscles from five autopsied cases (one with SCA 1 and four with SCA 3) were histologically examined. VCP was found in two of the seven SCA 1 patients (29%), three of the nineteen SCA 3 patients (16%), and in nine of the eleven MSA patients (82%). VCP observed in SCA 1 and SCA 3 was various in the severity and showed no exacerbation on sleep load test in all of the eight patients but one SCA 3 patient. In this patient, the findings of fiberoptic laryngoscopy were quite similar to those found in MSA. All the intrinsic laryngeal muscles including cricothyroid (CT), interarytenoid (IA), and posterior cricoarytenoid (PCA) muscles showed neurogenic atrophy in one autopsied SCA 1 and four SCA 3 patients. Our conclusion is that VCP in SCA 1 and SCA 3 contrasts with that in MSA in its occurrence, response to the sleep load test, and the distribution of the neurogenic abnormalities among the intrinsic laryngeal muscles.
Assuntos
Doença de Machado-Joseph/fisiopatologia , Atrofia de Múltiplos Sistemas/fisiopatologia , Ataxias Espinocerebelares/fisiopatologia , Paralisia das Pregas Vocais/fisiopatologia , Adulto , Idoso , Feminino , Humanos , Músculos Laríngeos/patologia , Doença de Machado-Joseph/complicações , Doença de Machado-Joseph/patologia , Masculino , Pessoa de Meia-Idade , Atrofia de Múltiplos Sistemas/complicações , Atrofia de Múltiplos Sistemas/patologia , Mecânica Respiratória , Ataxias Espinocerebelares/complicações , Ataxias Espinocerebelares/patologia , Paralisia das Pregas Vocais/etiologia , Paralisia das Pregas Vocais/patologiaRESUMO
We report the first case of inclusion body myositis (IBM) which occurred after interferon-alpha treatment for chronic hepatitis C. A 63-year-old man contracted hepatitis C virus (HCV) and human T cell leukemia virus type 1 (HTLV-1) from a blood transfusion at age of 18. At age 57, he was treated with interferon-alpha (IFN alpha) for chronic hepatitis C. A month later, he developed muscle weakness in the proximal part of his lower extremities. IBM was diagnosed after a muscle biopsy at age 62. Steroid therapy improved his muscle power. One year later, worsening of his hepatic condition required re-administration of IFN alpha after gradual decrease and discontinuation of prednisolone. However, several days later, he rapidly became weaker and required a cane to walk. Elevated serum creatine kinase (2,199IU/L) and abnormal intensity in his MRI of thigh were demonstrated. The second muscle biopsy, performed after obtaining the informed consent from our patient, confirmed relapse of IBM. His symptoms improved again after discontinuation of IFN alpha and re-induction of prednisolone. Although a few cases each of IBM associated with HCV or HTLV-1 have been reported, the pathogenesis of virus-associated inflammatory myositis has not been clearly understood. Moreover, there has been no description on IBM associated with IFN alpha treatment, though several cases of polymyositis have been reported. Our case suggests that infection of HCV and HTLV-1 may be immunologically involved in the development of IBM and that IFN alpha can be directly related to onset and relapse of IBM.
Assuntos
Infecções por HTLV-I/complicações , Hepatite C/complicações , Hepatite C/tratamento farmacológico , Interferon-alfa/efeitos adversos , Miosite de Corpos de Inclusão/induzido quimicamente , Humanos , Masculino , Pessoa de Meia-Idade , Miosite de Corpos de Inclusão/etiologia , Paraparesia Espástica TropicalRESUMO
A 79-year-old woman, with no immune deficit, had presented progressive visual disturbance, diplopia and ptosis of her left eye over 2 weeks. T1-weighted MR images with gadolinium showed a heterogeneously enhanced lesion extending from the left orbital apex along the optic nerve to the cavernous sinus. Although we could not detect fungus by a transsphenoidal biopsy, we suspected fungal infection because of high level of galactomanan antigen in serum. Despite antifungal chemotherapy, her symptoms did not improve. CT image on day 40 showed an aneurysm in the left internal carotid artery, on day 43 cerebral infarction in the left internal carotid artery distribution and on day 45 she died. Autopsy disclosed that aspergillus hyphae invaded the left sphenoid sinus, cavernous sinus and wall of the aneurysm. In this case, fungal infection in the frontal skull base including orbital apex caused mycotic aneurysm in the intracavernous portion of the left internal carotid artery. Skull base aspergillosis presenting orbital apex syndrome is itself rare and in addition, the occurrence of cerebral infarction in the mycotic aneurysm has hardly been reported. We should have cerebrovascular disease in mind as a complication of CNS aspergillosis.