1963
DOI: 10.1159/000104293
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Hérédo-dégénérescence spino-cérébelleuse (HDSC) associée au syndrome de Klinefelter

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Cited by 8 publications
(3 citation statements)
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“…Including the sisters in the present report, 15 cases have been documented in the literature in a total of 11 families (Table I). We have not included two reports of males with familial ataxia and incidental Klinefelter syndrome [Hecht and Ruskin, 1960; Indemini and Amman, 1963], and have also excluded a family where urinary gonadotropins were elevated in one affected family member but decreased in another [Richards and Rundle, 1959]. The classification of ataxia with hypergonadotropic hypogonadism is confusing, with some cases designated as variants of Holmes type ataxia [De Michele et al, 1993], and others reported as a variant of Perrault syndrome [Nishi et al, 1988; Linssen et al, 1994; Gottschalk et al, 1996], a recessive disorder comprising ovarian dysgenesis and sensorineural deafness, with neurological abnormalities present in a minority of cases [Pallister and Opitz, 1979; Gottschalk et al, 1996].…”
Section: Discussionsupporting
confidence: 91%
“…Including the sisters in the present report, 15 cases have been documented in the literature in a total of 11 families (Table I). We have not included two reports of males with familial ataxia and incidental Klinefelter syndrome [Hecht and Ruskin, 1960; Indemini and Amman, 1963], and have also excluded a family where urinary gonadotropins were elevated in one affected family member but decreased in another [Richards and Rundle, 1959]. The classification of ataxia with hypergonadotropic hypogonadism is confusing, with some cases designated as variants of Holmes type ataxia [De Michele et al, 1993], and others reported as a variant of Perrault syndrome [Nishi et al, 1988; Linssen et al, 1994; Gottschalk et al, 1996], a recessive disorder comprising ovarian dysgenesis and sensorineural deafness, with neurological abnormalities present in a minority of cases [Pallister and Opitz, 1979; Gottschalk et al, 1996].…”
Section: Discussionsupporting
confidence: 91%
“…Both patients were sex chromatin negative in only two of these families (two sisters and one aunt-niece combination). Only one of two brothers with Klinefelter's syndrome in a family showing familial 'spinal cerebellar degeneration' was sex chromatin positive (Indemimi and Ammann, 1961). But Rosenkranz found an XO Turner's patient who had an XXY Klinefelter's brother and two other mothers of XXY patients who were XXX; one of these was a mosaic of the XX/XXX type.…”
Section: Familial Occurrence and Sex Chromatinmentioning
confidence: 99%
“…Isolated cases of Klinefelter syndrome have been associated with other Mendelian diseases, such as Ehlers-Danlos syndrome (Hsu, Geller, and Nemhauser, 1966), achondroplasia (Sendrail et al, 1967),* familial spino-cerebellar degeneration,t (Indemini and Ammann, 1961), and thyroid hypofunction (Herbeuval et al, 1968). In the present case family data were entirely negative.…”
mentioning
confidence: 99%