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NEUROLOGY 1994;44:1274
© 1994 American Academy of Neurology

The phenotype of "pure" autosomal dominant spastic paraplegia

A. Dürr, MD, A. Brice, MD, M. Serdaru, MD, G. Rancurel, MD, C. Derouesné, MD, O. Lyon-Caen, MD, Y. Agid, MD, PhD and B. Fontaine, MD, PhD

INSERM U289 (Drs. Dürr, Brice, and Agid), the Federation de Neurologie (Drs. Dürr, Brice, Serdaru, Lyon-Caen, Agid, and Fontaine), Service d'Urgences Cérébrovasculaires (Dr. Rancurel), Service de Neurologie (Dr. Derouesné), INSERM U360 (Dr. Lyon-Caen), and INSERM U134 (Dr. Fontaine), Hôpital de la Salpêtrière, Paris, France.

We studied 23 families with "pure" autosomal dominant spastic paraplegia. Examination of 142 at-risk individuals allowed identification of 70 patients, including 12 who were clinically affected but unaware of symptoms. The frequency of lower limb muscle weakness, decreased vibration sense, hyperreflexia in the upper limbs, and sphincter disturbances increased with the disease duration. The distribution of age at onset was unimodal, with a mean onset of 29 years (range, 1 to 68). The clinical manifestations of "early-onset" (<29 years) and "late-onset" (>29 years) patients were not significantly different. Age at onset varied as much within families as among families; anticipation and imprinting did not occur. No clinical criteria allowed differentiation among the families studied. Only linkage studies can provide accurate classification of this disease.

Address correspondence and reprint requests to Dr. Alexandra Dürr, INSERM U289, Hôpital de Salpêtrière, 47 bd de l'Hôpital, 75651 Paris Cedex 13, France.

Supported by the Association Française contre les Myopathies, the Groupement de Recherches et d' Etudes sur le Genome, the Association pour le Développement de la Recherche sur les Maladies Neurologiques et Psychiatriques, the Assistance Publique des Hôpitaux de Paris, and the Association pour la Recherche sur la Sclérose en Plaques.

Received October 22, 1993. Accepted in final form January 14, 1994.




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