A new genetic variant of spinal muscular atrophy

Zellweger, H; Schneider, H J; Schuldt, Dennis R.

doi:10.1212/wnl.19.9.865

Cited by 14 publications

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“…Furthermore, in pedigrees B-G different types of SMA are present in each pedigree. A few well-documented pedigrees with clinical data, electromyographic and histopathological investigations like our seven pedigrees have been described by Brandt (1950), Amick et al (1966), Almog & Tal (1968), Zellweger et al (1969, 1972), and Zeiler et al (1976, but only Amick et al…”

Section: Discussionsupporting

confidence: 69%

“…However, several authors have described familial SMA affecting distant relatives, indicating a hereditary pattern incompatible with simple autosomal recessive inheritance (Brandt 1950, Wohlfart et a]. 1955, Kugelberg & Welander 1956, Becker 1964, Amick et al 1966, Almog & Tal 1968, Zellweger et al 1969, White & Blaw 1971, Zellweger et al 1972, Hausmanowa-Petrusewicz et al 1976, Zeiler et al 1976, Zerres & Grimm 1983. Becker (1964) analysed this mode of inheritance and postulated an allelic model.…”

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confidence: 99%

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Unusual pedigree patterns in seven families with spinal muscular atrophy; further evidence for the allelic model hypothesis

Bouwsma¹,

Leschot²

1986

Clinical Genetics

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Clinical and genetic findings are presented in 18 patients, from 7 pedigrees with different types of spinal muscular atrophy (SMA). The SMA diagnosis was based on EMG and muscle biopsy findings. All 7 pedigrees show an unusual genetic pattern, not consistent with simple autosomal recessive inheritance. Furthermore, in 6 of the 7 pedigrees different types of SMA were present within each pedigree. Our findings can be explained by an extension of a multiple alleles hypothesis originally described by Becker in 1964.

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Section: Discussionsupporting

confidence: 69%

mentioning

confidence: 99%

Unusual pedigree patterns in seven families with spinal muscular atrophy; further evidence for the allelic model hypothesis

Bouwsma¹,

Leschot²

1986

Clinical Genetics

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“…Details of this hereditary variant of SMA have been described elsewhere (Zellweger et al, 1969b). It is the purpose of this presentation to report further observations of familial SMA where this type of inheritance may be instrumental.…”

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confidence: 94%

A new genetic variant of the spinal muscular atrophies in infancy.

Zellweger¹,

Hanhart²,

Schneider³

1972

Journal of Medical Genetics

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“…A tenable explanation for this pattern of inheritance was postulated by Becker, as cited by Zellweger et al (1969). The occurrence of three alleles on the locus of the spinal muscular atrophy gene is postulated.…”

Section: Discussionmentioning

confidence: 99%

An Unusual Inheritance Pattern for Spinal Muscular Atrophy

White

Blaw

1971

Develop Med Child Neuro

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SUMMARY Progressive spinal muscular atrophy in infancy (Werdnig‐Hoffmann's Disease) is considered to be inherited as an autosomal recessive trait. This paper reports the occurrence of this process in first cousins which, in addition to other examples in the literature, suggests an alternate pattern of genetic transmission. Possible modes of inheritance are discussed, particularly that of a dominant inheritance requiring an allelomorphic activator gene for phenotypic expression. RÉSUMÉ On considère que 'amyotrophie spinale infantile (Werdnig‐Hoffmann) est transmise selon le mode autosomique récessif. Cette étude rapporte la survenue de cas chez des cousins germains, ce qui suggère, en association avec d̂autres cas de la littérature, un autre type de transmission héréditaire. Les modes possibles de transmission sont discutés, en particulier celui d̂un caractère dominant nécessitant un géne activateur allélomorphe pour parvenir à 'expression phénotypique. ZUSAMMENFASSUNG Die progressive spinale Muskelatrophie (Werdnig‐Hoffman' sche Krankheit) bei Kindern wird als eine autosomal rezessive Erbkrankheit betrachtet. Diese Arbeit berichtet iiber einen derartigen Fall bei Vettern ersten Grades, woraus zusammen mit anderen Beispielen aus der Literatur ein anderer Weg der genetischen übertragung erörtert wird. Die Möglichkeiten des Erbganges werden diskutiert, vor allem eine dominante Vererbung, wobei für die phänotypische Erscheinung ein allelomorphisches Aktivatorgen benötigt wird.

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A new genetic variant of spinal muscular atrophy

Cited by 14 publications

References 0 publications

Unusual pedigree patterns in seven families with spinal muscular atrophy; further evidence for the allelic model hypothesis

Unusual pedigree patterns in seven families with spinal muscular atrophy; further evidence for the allelic model hypothesis

A new genetic variant of the spinal muscular atrophies in infancy.

An Unusual Inheritance Pattern for Spinal Muscular Atrophy

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