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Predominant dystonia with marked cerebellar atrophy

A rare phenotype in familial dystonia

I. Le Ber, MD, F. Clot, PhD, L. Vercueil, MD, A. Camuzat, M. Viémont, N. Benamar, P. De Liège, MD, A. M. Ouvrard-Hernandez, MD, P. Pollak, MD, G. Stevanin, PhD, A. Brice, MD and A. Dürr, MD, PhD

From INSERM U679 (I.L., F.C., A.C., N.B., G.S., A.B., A.D.), Département de Génétique, Cytogénétique et Embryologie (I.L., A.B., A.D.), and Fédération des Maladies du Système Nerveux (I.L., M.V., A.B.), Hôpital de la Pitié-Salpêtrière AP-HP, Paris; UFR Pitié-Salpêtrière (I.L., F.C., A.C., G.S., A.B., A.D.), Université Pierre et Marie Curie, Paris; Département de Neurologie (L.V., A.-M.O.-H., P.P.), CHU, Grenoble; and SCP de Neurologie et Psychiatrie (P.D.), Niort, France.

Address correspondence and reprint requests to Dr. Alexandra Dürr, INSERM U679 (former U289), Hôpital de la Salpêtrière, 47 boulevard de l’Hôpital, 75651 Paris Cedex 13, France; e-mail: durr{at}ccr.jussieu.fr

Background: Dystonia syndromes constitute a heterogeneous group of phenotypes that may be caused by different heredodegenerative, metabolic, or genetic diseases.

Objective: To describe the characteristics of an unusual dystonia-plus phenotype associated with cerebellar atrophy.

Methods: We selected patients with predominant dystonia and cerebellar atrophy among the 861 families referred to us for genetic testing from 1992 to 2003. The main secondary heredodegenerative causes and the major genes responsible for hereditary dystonias and autosomal dominant or recessive ataxias were excluded.

Results: We identified 12 patients in 8 families with an unusual dystonia-plus phenotype characterized by dystonia and cerebellar atrophy on brain MRI. The mean age at onset was 27.3 ± 11.5 years (range: 9 to 42 years) and the mean disease duration 14.7 ± 7.7 years (range: 4 to 30). At onset, dystonia was focal or multifocal, mainly affecting vocal cords (n = 8) and upper limbs (n = 2). During the disease course spasmodic dysphonia became severe in five patients, leading to complete aphonia in two. Dystonia became generalized in five. Cerebellar ataxia was limited to unsteadiness in most patients and progressed very slowly. The paucity of clinical cerebellar signs contrasted with the marked cerebellar atrophy on brain MRI in most patients. Four families with two affected sibs support the hypothesis of an autosomal recessive disorder. However, X-linked inheritance is possible since only men were affected.

Conclusion: We have characterized an unusual familial phenotype associating dystonia and cerebellar atrophy in 12 male patients.

Editorial, see page 1740

Deceased.

Supported by the SPATAX research network (GIS-Maladies rares A02191DS, and ANR A05221DS), the French research network on dystonia, and the VERUM foundation. I.L.B. had a fellowship from the Société Française de Neurologie.

Disclosure: The authors report no conflicts of interest.

Received March 8, 2006. Accepted in final form August 16, 2006.

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