Familtal Paralysis Agitans Juvenilis. A Clinical, Anatomical and Genetic Study

Ota, Yukio; Miyoshi, Sawako; Ueda, Osamu; Mukai, T; Maeda, Akio

doi:10.1111/j.1440-1819.1958.tb00623.x

Cited by 16 publications

(13 citation statements)

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“…This is all the more the case, if childhood and juvenile patients are included in the analysis (Yokochi and Narabayashi, 1981). Familial YOPD may (Yokochi and Narabayashi, 1981;Muenter et al, 1986Muenter et al, , 1994Quinn et al, 1987) and may not (Ota et al, 1958;Mata et al, 1983;Mayer et al, 1986;Dwork et al, 1993;Takahashi et al, 1994) be characterized in terms of typical nerve cell loss with Lewy body (LB) formation in the substantia nigra and elsewhere in the brain. With LB pathology, familial YOPD has been found to occur with clinically atypical features such as dystonia (Yokochi and Narabayashi, 1981) and with early dementia (Muenter et al, 1986(Muenter et al, , 1994.…”

Section: The Diagnostic and Nosologic Significance Of Tremor In Familmentioning

confidence: 97%

“…Without LB features, mere parkinsonism has been described, but dystonia (Dwork et al, 1993;Takahashi et al, 1994) and dementia (Mata et al, 1983) were also observed. The possible modes of inheritance in families, where LB pathology was not present, were varying, too (autosomal-recessive: Ota et al, 1958;Mata et al, 1983;Takahashi et al, 1994;autosomal-dominant: Mata et al, 1983;Mayer et al, 1986;Dwork et al, 1993).…”

Section: The Diagnostic and Nosologic Significance Of Tremor In Familmentioning

confidence: 97%

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Genetic factors in the etiology of idiopathic Parkinson's disease

Vieregge

1994

J Neural Transm Gen Sect

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Overshadowed by a vigorous search for an environmentally-derived toxin that would be possibly relevant for the pathogenesis of idiopathic Parkinson's disease (PD), genetic factors have largely been neglected for this condition during the last two decades. Recent descriptions of kindreds over three or more generations with several family members affected have renewed the interest in genetics of PD. Concurring with this, diagnostic concepts and pathologic criteria for PD and for idiopathic Lewy-body (LB) disease have been reevaluated such that LB-proven parkinsonism is sufficiently differentiated from familial parkinsonism without LB pathology. Surveys on genetic epidemiology in PD have confirmed the 19th century's notion that 10 to 15% of PD index cases report a further family member with PD. These figures were, however, substantiated on a statistical basis only in single surveys when comparisons were made with the numbers of PD relatives in control index cases. Twin studies did not reveal a higher rate of concordance within monozygotic pairs than in dizygotic pairs. Tests of striatal 18-F-Dopa uptake in clinically unaffected mono- and dizygotic co-twins did not alter the ratio between the concordance rates. Though not excluded by the twin studies, multifactorial (or polygenic) inheritance as well as mitochondrial inheritance are at present less likely to cover most of the inheritance pattern in familial LB parkinsonism. Instead, autosomal dominant inheritance with reduced penetrance is the most probable inheritance pattern for most of the reported pedigrees. Molecular genetic investigations have to consider the biochemical basis of the age- and region-specific pathology of PD. The first analyses of linkage and allelic associations gave inconclusive results in sporadic and familial PD. The hunt for metabolic factors that link geno- and phenotype expression in PD will continue.

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Section: The Diagnostic and Nosologic Significance Of Tremor In Familmentioning

confidence: 97%

Section: The Diagnostic and Nosologic Significance Of Tremor In Familmentioning

confidence: 97%

Genetic factors in the etiology of idiopathic Parkinson's disease

Vieregge

1994

J Neural Transm Gen Sect

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“…6 There is also a juvenile form of parkinsonism which shows a clear autosomal recessive mode of transmission. 36 More recently, two large kindreds were reported 7 with evidence of a single gene action modulated by environmental factors affecting duration of the disease. All these studies suggest some degree of genetic influence in one or more pedigrees.…”

Section: Genetic Factorsmentioning

confidence: 99%

Environment, Genetics and Idiopathic Parkinson's Disease

Poirier¹,

Kogan²,

Gauthier³

1991

Can. j. neurol. sci.

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ABSTRACT:Since Idiopathic Parkinson's disease (IPD) was first described more than 170 years ago, there have been major advances in the understanding of the etiology of the disease as well as in its treatment. This article will review current knowledge concerning the role of the environment, genetic hypotheses and the aging factor in the etiology of IPD and proposes a complex interaction involving all these factors. Hypotheses regarding mitochondrial inhibition and free radical generation in IPD are discussed in relation to the mechanism of action of neurotoxins known to produce parkinsonian syndromes. RESUME: Depuis sa description initiale il y a un peu plus de 170 ans, de nombreuses decouvertes fondamentales et cliniques ont permis de mieux compredre la maladie de Parkinson. Cet article detaille certaines observations recentes concernant le role possible de l'environnement, la genetique et le vieillissement dans I'etiologie de la maladie de Parkinson. Les hypotheses concernant l'inhibition mitochondriale et la generation de radicaux libres dans la maladie de Parkinson sont discutees en rapport avec les mecanismes d'action de neurotoxines connues comme produisant des syndromes parkinsoniens.Can. J. Neurol. Sci. 1991; 18: 70-76 Idiopathic Parkinson's disease (IPD) is characterized by major clinical disturbances caused by dopamine depletion in the corpus striatum, resulting from neuronal loss in the substantia nigra (SN).1 The dopamine depletion is the result of a severe degeneration of the dopaminergic nigro-striatal pathway which normally inhibits the activity of a subpopulation of striatal neurons. While the physiological and neurochemical consequences of the dopamine depletion have been extensively documented, very little is known about the underlying cause of dopamine cell death or the mechanism by which dopamine cells degenerate. Numerous hypotheses have been presented including the following: a) IPD is the result of a random process.2 This hypothesis assumes that the age-related loss of neurons can be accelerated by the cumulative action of repeated insults of ordinary life (viruses, toxins, head injury, etc.). A revised form of this concept is also known as the "accelerated aging hypothesis". 3 b) IPD is the result of a lack of neurotrophic hormone. 4 It is hypothesized that a dopaminergic-specific growth factor is synthesized and stored in the target striatal cells and that the inability of these cells to provide the required dopaminergic neurotrophic hormone, thereby causes impairment to SN neurons, c) IPD is caused by a defect in the DNA repair mechanism.5 This hypothesis is derived from observations showing that cultured fibroblasts from parkinsonian patients are hypersensitive to the lethal effects of DNA-damaging agents such as x-rays. It postulates that somatic mutations occurring in early embryogenesis cause a lifelong accumulation of unrepaired DNA damage in neurons, resulting in lethal consequences on the SN. d) IPD is the result of a specific genetic defect(s) or genetic predisposition(s).3 '...

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“…Outros casos familiares foram apresentados em 19S8, quando Ota et al 47 , relataram uma família com três irmãos (2 irmãs e 1 irmão) que iniciaram um parkinsonismo juvenil aos 12, 13 e aos 20 anos. Uma das pacientes, faleceu aos 49 anos e seu cérebro foi estudado patologicamente.…”

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“…Além das alterações palidais anteriormente descritas, Davison encontrou alterações na substância negra, além de desmielinização dos feixes corticoespinhais, o que o levou a denominar seus casos (havia mais 4 com sinais piramidais que não foram estudados patologicamente) de "doença pálido-piramidal". Em 1958, Ota et al 47 , apresentaram a primeira descrição de estudo patológico com alterações semelhantes às habitualmente vistas nos casos clássicos de DP, com despigmentação da substância negra, perda neuronal em vários núcleos da base, locus ceruleus e também perda neuronal na camada granular do cerebelo. Não fizeram menção ao encontro de corpúsculos de Lewy na substância negra.…”

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Considerações a respeito da doença de Parkinson de início precoce revisão crítica da literatura

Andrade

1996

Arq. Neuro-Psiquiatr.

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RESUMO -Desde sua descrição, em 1817, a doença de Parkinson sempre foi entendida como enfermidade que afeta predominantemente indivíduos acima dos 55 anos. Entretanto, desde o final do século passado descreveramse casos com início em idades precoces, abaixo dos 40 anos. Inúmeras séries de pacientes têm sido apresentadas, com as mais numerosas contando em torno de 60 casos. Tem havido muita controvérsia a respeito de alguns aspectos. Um deles diz respeito à própria denominação, sendo chamado por uns como parkinsonismo de início precoce, parkinsonismo jovem por outros e, ainda, doença de Parkinson de início precoce por outros tantos. Isto denota outra controvérsia sobre a verdadeira situação nosológica: trata-se da mesma doença de Parkinson, com as inclusões dos corpos de Lewy, que ocorre nos indivíduos mais idosos ou, diferentemente, trata-se de outras entidades, com anatomopatologia diversa? Esta a razão principal dos inúmeros estudos clínicos realizados nos pacientes deste grupo de início precoce, pois o número de estudos anatomopatológicos em tais pacientes é muito reduzido. Há evidências de que a maioria dos pacientes seja de doença de Parkinson clássica com início em idades mais jovens, apesar de uma série de descrições patológicas diferentes do habitual para esta enfermidade. Há maior encontro de casos familiares entre os pacientes jovens. Uma das características clínicas mais marcantes é o precoce e invariável aparecimento de complicações da levodopaterapia, como discinesias e flutuações. Por outro lado, parece haver uma evolução clínica mais lenta e favorável. São apresentadas, revistas e comentadas grande parte das séries que apareceram na literatura. PALAVRAS-CHAVE: doença de Parkinson, início precoce, parkinsonismo precoce, juvenil.

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Familtal Paralysis Agitans Juvenilis. A Clinical, Anatomical and Genetic Study

Cited by 16 publications

References 6 publications

Genetic factors in the etiology of idiopathic Parkinson's disease

Genetic factors in the etiology of idiopathic Parkinson's disease

Environment, Genetics and Idiopathic Parkinson's Disease

Considerações a respeito da doença de Parkinson de início precoce revisão crítica da literatura

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