Spastic Paraplegia
Mostrando 1-12 de 61 artigos, teses e dissertações.
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1. Prevalence of oropharyngeal dysphagia in hereditary spastic paraplegias
RESUMO As paraparesias espásticas hereditárias (PEH) são um grupo de doenças genéticas caracterizado por espasticidade dos membros inferiores com ou sem características neurológicas adicionais. A disfunção da deglutição é pouco estudada nas PEH e sua presença pode levar a complicações respiratórias e nutricionais significativas. Objetivo: O
Arq. Neuro-Psiquiatr.. Publicado em: 10/01/2020
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2. Hereditary spastic paraplegia: a clinical and epidemiological study of a Brazilian pediatric population
RESUMO Objetivo: Investigar paraplegia espástica hereditária (PEH) em uma amostra brasileira de pacientes pediátricos. Métodos: Foram colhidos dados clínicos, epidemiológicos, radiológicos e laboratoriais de 35 pacientes. Resultados: Doze pacientes foram classificados como PEH simples (PEH-S), e 23 como PEH complicada (PEH-C). A média de idade de
Arq. Neuro-Psiquiatr.. Publicado em: 2019-01
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3. Tradução e validação da escala de classificação de paraplegia espástica (SPRS) para a versão brasileira
RESUMO As paraparesias espásticas hereditárias (PEH) apresentam progressiva espasticidade e fraqueza dos membros inferiores. Não existem escalas validadas em língua portuguesa para quantificar a gravidade da doença. Objetivo Traduzir e validar para o português do Brasil a Spastic Paraplegia Rating Scale (SPRS). Método Dois neurologistas experiente
Arq. Neuro-Psiquiatr.. Publicado em: 2016-06
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4. Análise in vitro da esclerose lateral amiotrófica tipo 8 e estudo genético da paraplegia espástica 4 / In vitro analysis of amyotrophic lateral sclerosis type 8 and genetic study of spastic paraplegia 4
As doenças do neurônio motor (DNM) apresentam grande variabilidade clínica e genética. A Esclerose Lateral Amiotrófica (ELA) é a forma mais comum de DNM de início tardio. Sua manifestação devastadora e incurável leva a uma profunda perda da qualidade de vida do paciente. A ELA8 é uma forma autossômica dominante de ELA familial causada por mutaç�
Publicado em: 2011
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5. Inbreeding levels in Northeast Brazil: strategies for the prospecting of new genetic disorders
A new autosomal recessive genetic condition, the SPOAN syndrome (an acronym for spastic paraplegia, optic atrophy and neuropathy syndrome), was recently discovered in an isolated region of the State of Rio Grande do Norte in Northeast Brazil, in a population that was identified by the IBGE (Brazilian Institute of Geography and Statistics) as belonging to the
Genetics and Molecular Biology. Publicado em: 12/03/2010
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6. Caracterização motora e funcional da paraplegia espástica, atrofia óptica e neuropatia periférica (síndrome Spoan) / Functional and motor characterization of spastic paraplegia, optic atrophy and peripheral neuropathy
INTRODUCTION: Spoan syndrome is a complex form of spastic paraplegia of recessive inheritance recently identified in individuals from Southwest of Rio Grande do Norte state. Clinical features are characterized by congenital optic atrophy, progressive spastic paraplegia, and axonal neuropathy, resulting in severe handicap. Phenotypic description of this disea
Publicado em: 2009
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7. Genetic research of two new neurodegenerative dieases; Spoan Syndrome (Spastic Paraglegia with Optic Atrophy and Neuropathy) and SPG34 / Investigação genética de duas novas doenças neurodegenerativas: síndrome de Spoan (Spastic Paraglegia with Optic Atrophy and Neuropathy) e SPG34
We studied two large families with expressions of neurodegenerative diseases. One is from the high west of the state of Rio Grande do Norte and the other from São José do Rio Preto region, in São Paulo. The first, an extended family with a tradition of consanguineous marriages, has 68 individuals affected by the syndrome named by us Spoan (Spastic Paraple
Publicado em: 2008
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8. X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.
X linked hereditary spastic paraplegia is a rare condition that has been divided into two forms (the pure spastic form and the complicated form) as a function of clinical course and severity. A gene for pure hereditary spastic paraplegia (SPG2) has been mapped to the proximal long arm of the X chromosome (Xq21) by linkage to the DXS17 locus, while a gene for
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9. Manifesting heterozygosity in sex-linked spastic paraplegia?
An unusual form of hereditary spastic paraplegia is described. Affected females have a late-onset slowly progressive spastic paraparesis. Affected males show oligophrenia with a rapidly progressive spastic quadriplegia. The mode of inheritance is consistent with sex-linkage, with partial manifestation in female carriers.
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10. Familial spastic paraplegia with Kallmann's syndrome.
A sibship is reported in which two males have spastic paraparesis and Kallmann's syndrome (hypogonadotrophic hypogonadism and anosmia). One of the brothers also is color blind. The association of familial spastic paraplegia and Kallmann's syndrome has not been described previously.
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11. X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg.
A family with 24 males affected by an X-linked type of spastic paraplegia is reported. Twelve affected members were personally examined showing the pure form of the disease. Half of the affected males had many descendants, all normal. Linkage studies strongly suggest that this X-linked form of spastic paraplegia and Xg loci are not at a measurable distance o
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12. Occurrence of familial spastic paraplegia in only one of monozygous twins.
Three patients who suffer from spastic paraplegia are described who belong to two generations in one family. One of the patients, who has had symptoms and signs for at least 10 years, has a monozygous twin who is unaffected. Using blood groups and chromosomal polymorphisms, the probability of monozygosity is estimated to be 0.99986. The observation of nonpen