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Evidence that Charcot-Marie-Tooth disease with tremor coincides with the Roussy-Levy syndrome

Published online by Cambridge University Press:  18 September 2015

C. Chouza ,
J.L. Caamaño ,
O. De Medina ,
J. Bogacz ,
C. Oehninger ,
R. Vignale ,
G. De Anda ,
E. Novoa ,
R. De Bellis  and
H. Cardozo
...Show all authors
O. De Medina
Affiliation:
Neurological Institute, Dermo-Syphilopathy Department and Hematology Department, University School of Medicine, Montevideo, Uruguay.
J. Bogacz
Affiliation:
Neurological Institute, Dermo-Syphilopathy Department and Hematology Department, University School of Medicine, Montevideo, Uruguay.
C. Oehninger
Affiliation:
Neurological Institute, Dermo-Syphilopathy Department and Hematology Department, University School of Medicine, Montevideo, Uruguay.
R. Vignale
Affiliation:
Neurological Institute, Dermo-Syphilopathy Department and Hematology Department, University School of Medicine, Montevideo, Uruguay.
G. De Anda
Affiliation:
Neurological Institute, Dermo-Syphilopathy Department and Hematology Department, University School of Medicine, Montevideo, Uruguay.
E. Novoa
Affiliation:
Neurological Institute, Dermo-Syphilopathy Department and Hematology Department, University School of Medicine, Montevideo, Uruguay.
R. De Bellis
Affiliation:
Neurological Institute, Dermo-Syphilopathy Department and Hematology Department, University School of Medicine, Montevideo, Uruguay.
H. Cardozo
Affiliation:
Neurological Institute, Dermo-Syphilopathy Department and Hematology Department, University School of Medicine, Montevideo, Uruguay.
B. Crispino
Affiliation:
Neurological Institute, Dermo-Syphilopathy Department and Hematology Department, University School of Medicine, Montevideo, Uruguay.
S. Romero
Affiliation:
Neurological Institute, Dermo-Syphilopathy Department and Hematology Department, University School of Medicine, Montevideo, Uruguay.
H. Correa
Affiliation:
Neurological Institute, Dermo-Syphilopathy Department and Hematology Department, University School of Medicine, Montevideo, Uruguay.
S. Feres
Affiliation:
Neurological Institute, Dermo-Syphilopathy Department and Hematology Department, University School of Medicine, Montevideo, Uruguay.
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Abstract:

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Four members of a family with consanguineous relationships, the proband and his three children (2 sons and 1 daughter) are affected with Familial Spastic Ataxia and with Ehlers-Danlos' Syndrome with platelet aggregation dysfunction. In the four cases, this exceptional association appears remarkably homogeneous both in clinical and laboratory studies. The two syndromes are of dominant-autosomic transmission and probably originated in a new mutation which presumably maintained a genetic linkage. Spastic ataxia is characterized by a precocious onset and a slow evolution. The first-born son shows a dominant pyramidal syndrome with mild ataxia suggesting that it is a transitional form of familial spastic paraplegia. The Ehlers-Danlos syndrome pertains to form II or “mitis” with moderate skin hyperelasticity and joint hypermobility. The abnormal platelet aggregation curves have the same profile in all the patients. The first-born son also presents a mitral valve prolapsus as we may find either in Ehlers-Danlos syndrome or in spastic ataxia.

Type
A—Clinical Studies
Information
Canadian Journal of Neurological Sciences , Volume 11 , Issue S4 , November 1984 , pp. 541 - 549
Copyright
Copyright © Canadian Neurological Sciences Federation 1984

References

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