Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia.

I. Le Ber, F. Clot, L. Vercueil, A. Camuzat, M. Viemont, N. Benamar, P. De Liege, A. M. Ouvrard-Hernandez, P. Pollak, G. Stevanin, A. Brice, A. Durr
Neurology. 2006-11-27; 67(10): 1769-1773
DOI: 10.1212/01.wnl.0000244484.60489.50

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1. Neurology. 2006 Nov 28;67(10):1769-73.

Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial

Le Ber I(1), Clot F, Vercueil L, Camuzat A, Viémont M, Benamar N, De Liège P,
Ouvrard-Hernandez AM, Pollak P, Stevanin G, Brice A, Dürr A.

Author information:
(1)INSERM U679, Département de Génétique, Cytogénétique et Embryologie, France.

Comment in
Neurology. 2006 Nov 28;67(10):1740-1.
Neurology. 2007 Jun 12;68(24):2157; author reply 2157-8.

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

DOI: 10.1212/01.wnl.0000244484.60489.50
PMID: 17130408 [Indexed for MEDLINE]

Auteurs Bordeaux Neurocampus