Familial Proximal Spinal Muscular Atrophy

Armstrong, Richard M.; Fogelson, M. Harold; Silberberg, Donald H.

doi:10.1001/archneur.1966.00470080092014

Cited by 37 publications

(13 citation statements)

References 6 publications

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“…Although HMSN-P is probably not ' 4 (241) toms have been reported in SMA (AD) [7, 9, [23][24][25][26][27]. Early appearance of hyporeflexia arid the presence of type 2 hyperlipidemia have been described in some patients with familial SMA [27].…”

Section: Discussionmentioning

confidence: 99%

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A new type of hereditary motor and sensory neuropathy linked to chromosome 3

Takashima

Nakagawa

Nakahara

et al. 1997

Annals of Neurology

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We report the clinical, pathological, and genetic findings of 23 patients in 8 families with hereditary motor and sensory neuropathy (proximal dominant form) (HMSN-P) in Okinawa, Japan. The clinical features were unique with respect to autosomal dominant inheritance, Kennedy-Alter-Sung syndrome-like proximal dominant neurogenic atrophy, obvious sensory involvement, painful muscle cramp, fasciculations, areflexia, and high incidences of elevated creatine kinase levels, hyperlipidemia, and diabetes mellitus. Electrophysiological and pathological studies revealed typical motor and sensory axonal neuropathy, and decreased numbers of anterior born and dorsal ganglion cells, which suggested the presence of neuronopathy in HMSN-P. Genetic linkage studies showed a lod score of 4.04 (two-point analysis) in DNA marker D3S1284. Haplotype analysis showed that the gene locus of the disease was mapped to 3p14.1-q13 bracketed by D3S1285 and D3S1281. In this region, the patients' chromosomes showed an obvious increase in the allele frequency of five markers. One allele in D3S1591 was identical in all patients but had a low frequency in the control population. This finding suggested the presence of linkage disequilibrium and a common origin of this allele in all patients with HMSN-P. The HMSN-P described here is a new clinical entity characterized by unique clinical manifestations and a new gene locus.

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Section: Discussionmentioning

confidence: 99%

“…SMA with autosomal recessive (AR) inheritance is subdivided into types I, 11, and I11 based on the age of disease onset. SMA with auto-soma1 dominant (AD) inheritance also has heterogeneous clinical features and complications [9, [23][24][25][26][27][28].…”

mentioning

confidence: 99%

A new type of hereditary motor and sensory neuropathy linked to chromosome 3

Takashima

Nakagawa

Nakahara

et al. 1997

Annals of Neurology

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“…Excluding families with quasidominance due to inbreeding (eg, the family of Almog and Tal [1968]) a number of families have been described where juvenile spinal muscular atrophy was inherited as an autosomal dominant trait with complete penetrance (Magee and de Jong, 1960;Armstrong, Fogelson, and Silberberg, 1966;Garvie and Woolf, 1966a;and Gamstorp, 1967). In some families where the disorder was clearly inherited as an autosomal dominant trait, penetrance was incomplete (Wohlfart et al, 1955 [family 2]; Kugelberg and Welander, 1956 [family 2]; Becker, 1964;Amick et al, 1966;Radu et al, 1966;Tsukagoshi et al, 1966).…”

Section: Classificationmentioning

confidence: 99%

The nosology of the spinal muscular atrophies.

Emery¹

1971

Journal of Medical Genetics

146

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“…PROGRESSIVE spinal muscular atrophy in infancy (Werdnig-Hoffmann's Disease) is generally considered to have a simple autosomal recessive mode of inheritance (Brandt 1950). However, similar disease states have been described in older children and in adults with either autoso-ma1 dominant (Armstrong et al 1966, Tsukagoshi et al 1966 or sex-linked recessive patterns (Kennedy et al 1968). More recently, Zellweger et al (1969) have described two family pedigrees in which second cousins were affected.…”

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confidence: 54%

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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Familial Proximal Spinal Muscular Atrophy

Cited by 37 publications

References 6 publications

A new type of hereditary motor and sensory neuropathy linked to chromosome 3

A new type of hereditary motor and sensory neuropathy linked to chromosome 3

The nosology of the spinal muscular atrophies.

An Unusual Inheritance Pattern for Spinal Muscular Atrophy

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