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A Large New England Kindred With Autosomal Dominant Neurogenic Scapuloperoneal Amyotrophy With Unique Features

A Large New England Kindred With Autosomal Dominant Neurogenic Scapuloperoneal Amyotrophy With... Abstract • We describe a large New England kindred bearing an autosomal dominant syndrome of neurogenic amyotrophy with variable expression. Features include congenital absence of muscles, progressive scapuloperoneal atrophy, laryngeal palsy, and progressive distal weakness and atrophy. The pattern of expression and progression varies in different branches of the family. Males are more severely affected than females. Disease expression is more severe and progressive in succeeding (third and fourth) generations. This striking increase in severity and progressivity in succeeding generations may have genetic implications. The syndrome most resembles the Stark-Kaeser chronic scapuloperoneal amyotrophy, but is considered a distinct entity. References 1. David TJ. Nature and etiology of the Poland anomaly . N Engl J Med . 1972;287:487-489.Crossref 2. Plott I. Congenital laryngeal-abductor paralysis due to nucleus ambiguus dysgenesis in three brothers . N Engl J Med . 1964;271:593-596.Crossref 3. Howeler CJ, Busch HFM, Geraedts JPM, Niermeijer MF, Staal A. Anticipation in myotonic dystrophy: fact or fiction? Brain . 1989;112:779-797.Crossref 4. LaSpada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy . Nature . 1991;352:77-79.Crossref 5. Oberle I, Rousseau F, Heitz D, et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile × syndrome . Science . 1991;252:1097-1102.Crossref 6. Yu S, Pritchard M, Kremer E, et al. Fragile × genotype characterized by an unstable region of DNA . Science . 1991;252:1179-1181.Crossref 7. Verkerk AJ, Pieretti M, Sutcliffe JS, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile × syndrome . Cell . 1991;65:904-914.Crossref 8. Sutherland CR, Haan EA, Kremer E, et al. Hereditary unstable DNA: a new explanation for some old genetic questions? Lancet . 1991;338:289-292.Crossref 9. Harley HG, Brook JD, Rundle SA, et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy . Nature . 1992;355:545-546.Crossref 10. Buxton J, Shelbourne P, Davies J, et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy . Nature . 1992;355:547-548.Crossref 11. Aslanidis C, Jansen G, Amemiya C, et al. Cloning of the essential myotonic dystrophy region and mapping of the putative defect . Nature . 1992;355:548-551.Crossref 12. Kaeser HE. Scapuloperoneal muscular atrophy . Brain . 1965;88:407-418.Crossref 13. Ricker K, Mertens H-G, Schimrigk K. The neurogenic scapuloperoneal syndromes . Eur Neurol . 1968;1:257-274.Crossref 14. Serratrice G, Gastaut JL, Pellissier JF, Pouget J. Stark-Kaeser type of chronic scapulo-peroneal amyotrophy: apropos of 10 cases . Rev Neurol (Paris) . 1976;132:823-832. 15. Probst A, Ulrich J, Kaeser HE, Heitz P. Scapulo-peroneal muscular atrophy: full autopsy report: unusual findings in the anterior horn of the spinal cord: lipid storage in muscle . Eur Neurol . 1977;16:181-196.Crossref 16. Young ID, Harper PS. Hereditary distal spinal muscular atrophy with vocal cord paralysis . J Neurol Neurosurg Psychiatry . 1980;43:413-418.Crossref 17. Boltshauser E, Lang W, Spillman T, Hof E. Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy? J Med Genet . 1989;26:105-108.Crossref 18. Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy, II: neurological, genetic, and electrophysiological findings in various neuronal degenerations . Arch Neurol . 1968;18:619-625.Crossref 19. Hahn AF, Brown WF, Koopman WJ, Feasby TE. X-linked dominant hereditary motor and sensory neuropathy . Brain . 1990;113:1511-1525.Crossref 20. Ruiz C, Rivas F, Ramirez-Casillas G, et al. A distinct congenital motor and sensory neuropathy (neuronal type) with dysmorphic features in a father and two sons: a variant of Charcot-Marie-Tooth disease . Clin Genet . 1987;31:109-113.Crossref 21. Tridon P, Andre JM, Andre M, Brichet B, Arnould G. Syndrome de Moebius et amyotrophies des membres . Rev Neurol (Paris) . 1971:124:367-378. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

A Large New England Kindred With Autosomal Dominant Neurogenic Scapuloperoneal Amyotrophy With Unique Features

DeLong, Robert; Siddique, Teepu
Archives of Neurology , Volume 49 (9) – Sep 1, 1992
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Publisher
American Medical Association
Copyright
Copyright © 1992 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1992.00530330027010
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Abstract

Abstract • We describe a large New England kindred bearing an autosomal dominant syndrome of neurogenic amyotrophy with variable expression. Features include congenital absence of muscles, progressive scapuloperoneal atrophy, laryngeal palsy, and progressive distal weakness and atrophy. The pattern of expression and progression varies in different branches of the family. Males are more severely affected than females. Disease expression is more severe and progressive in succeeding (third and fourth) generations. This striking increase in severity and progressivity in succeeding generations may have genetic implications. The syndrome most resembles the Stark-Kaeser chronic scapuloperoneal amyotrophy, but is considered a distinct entity. References 1. David TJ. Nature and etiology of the Poland anomaly . N Engl J Med . 1972;287:487-489.Crossref 2. Plott I. Congenital laryngeal-abductor paralysis due to nucleus ambiguus dysgenesis in three brothers . N Engl J Med . 1964;271:593-596.Crossref 3. Howeler CJ, Busch HFM, Geraedts JPM, Niermeijer MF, Staal A. Anticipation in myotonic dystrophy: fact or fiction? Brain . 1989;112:779-797.Crossref 4. LaSpada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy . Nature . 1991;352:77-79.Crossref 5. Oberle I, Rousseau F, Heitz D, et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile × syndrome . Science . 1991;252:1097-1102.Crossref 6. Yu S, Pritchard M, Kremer E, et al. Fragile × genotype characterized by an unstable region of DNA . Science . 1991;252:1179-1181.Crossref 7. Verkerk AJ, Pieretti M, Sutcliffe JS, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile × syndrome . Cell . 1991;65:904-914.Crossref 8. Sutherland CR, Haan EA, Kremer E, et al. Hereditary unstable DNA: a new explanation for some old genetic questions? Lancet . 1991;338:289-292.Crossref 9. Harley HG, Brook JD, Rundle SA, et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy . Nature . 1992;355:545-546.Crossref 10. Buxton J, Shelbourne P, Davies J, et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy . Nature . 1992;355:547-548.Crossref 11. Aslanidis C, Jansen G, Amemiya C, et al. Cloning of the essential myotonic dystrophy region and mapping of the putative defect . Nature . 1992;355:548-551.Crossref 12. Kaeser HE. Scapuloperoneal muscular atrophy . Brain . 1965;88:407-418.Crossref 13. Ricker K, Mertens H-G, Schimrigk K. The neurogenic scapuloperoneal syndromes . Eur Neurol . 1968;1:257-274.Crossref 14. Serratrice G, Gastaut JL, Pellissier JF, Pouget J. Stark-Kaeser type of chronic scapulo-peroneal amyotrophy: apropos of 10 cases . Rev Neurol (Paris) . 1976;132:823-832. 15. Probst A, Ulrich J, Kaeser HE, Heitz P. Scapulo-peroneal muscular atrophy: full autopsy report: unusual findings in the anterior horn of the spinal cord: lipid storage in muscle . Eur Neurol . 1977;16:181-196.Crossref 16. Young ID, Harper PS. Hereditary distal spinal muscular atrophy with vocal cord paralysis . J Neurol Neurosurg Psychiatry . 1980;43:413-418.Crossref 17. Boltshauser E, Lang W, Spillman T, Hof E. Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy? J Med Genet . 1989;26:105-108.Crossref 18. Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy, II: neurological, genetic, and electrophysiological findings in various neuronal degenerations . Arch Neurol . 1968;18:619-625.Crossref 19. Hahn AF, Brown WF, Koopman WJ, Feasby TE. X-linked dominant hereditary motor and sensory neuropathy . Brain . 1990;113:1511-1525.Crossref 20. Ruiz C, Rivas F, Ramirez-Casillas G, et al. A distinct congenital motor and sensory neuropathy (neuronal type) with dysmorphic features in a father and two sons: a variant of Charcot-Marie-Tooth disease . Clin Genet . 1987;31:109-113.Crossref 21. Tridon P, Andre JM, Andre M, Brichet B, Arnould G. Syndrome de Moebius et amyotrophies des membres . Rev Neurol (Paris) . 1971:124:367-378.

Journal

Archives of Neurology – American Medical Association

Published: Sep 1, 1992

References

  • Nature and etiology of the Poland anomaly
    David TJ
  • Congenital laryngeal-abductor paralysis due to nucleus ambiguus dysgenesis in three brothers
    Plott I
  • Anticipation in myotonic dystrophy: fact or fiction?
    Howeler CJ, Busch HFM, Geraedts JPM, Niermeijer MF, Staal A
  • Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
    LaSpada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH
  • Instability of a 550-base pair DNA segment and abnormal methylation in fragile × syndrome
    Oberle I, Rousseau F, Heitz D, et al
  • Fragile × genotype characterized by an unstable region of DNA
    Yu S, Pritchard M, Kremer E, et al
  • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile × syndrome
    Verkerk AJ, Pieretti M, Sutcliffe JS, et al
  • Hereditary unstable DNA: a new explanation for some old genetic questions?
    Sutherland CR, Haan EA, Kremer E, et al
  • Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
    Harley HG, Brook JD, Rundle SA, et al
  • Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
    Buxton J, Shelbourne P, Davies J, et al
  • Cloning of the essential myotonic dystrophy region and mapping of the putative defect
    Aslanidis C, Jansen G, Amemiya C, et al
  • Scapuloperoneal muscular atrophy
    Kaeser HE
  • The neurogenic scapuloperoneal syndromes
    Ricker K, Mertens H-G, Schimrigk K
  • Stark-Kaeser type of chronic scapulo-peroneal amyotrophy: apropos of 10 cases
    Serratrice G, Gastaut JL, Pellissier JF, Pouget J
  • Scapulo-peroneal muscular atrophy: full autopsy report: unusual findings in the anterior horn of the spinal cord: lipid storage in muscle
    Probst A, Ulrich J, Kaeser HE, Heitz P
  • Hereditary distal spinal muscular atrophy with vocal cord paralysis
    Young ID, Harper PS
  • Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy?
    Boltshauser E, Lang W, Spillman T, Hof E
  • Lower motor and primary sensory neuron diseases with peroneal muscular atrophy, II: neurological, genetic, and electrophysiological findings in various neuronal degenerations
    Dyck PJ, Lambert EH
  • X-linked dominant hereditary motor and sensory neuropathy
    Hahn AF, Brown WF, Koopman WJ, Feasby TE
  • A distinct congenital motor and sensory neuropathy (neuronal type) with dysmorphic features in a father and two sons: a variant of Charcot-Marie-Tooth disease
    Ruiz C, Rivas F, Ramirez-Casillas G, et al
  • Syndrome de Moebius et amyotrophies des membres
    Tridon P, Andre JM, Andre M, Brichet B, Arnould G