ABSTRACT
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.
Subject(s)
Cerebellar Diseases/pathology , Cerebellar Diseases/physiopathology , Cerebellum/pathology , Cerebellum/physiopathology , Dystonic Disorders/pathology , Dystonic Disorders/physiopathology , Adult , Atrophy/genetics , Atrophy/pathology , Atrophy/physiopathology , Cerebellar Ataxia/genetics , Cerebellar Ataxia/pathology , Cerebellar Ataxia/physiopathology , Cerebellar Diseases/genetics , Chromosome Disorders/genetics , DNA Mutational Analysis , Disease Progression , Dystonic Disorders/genetics , Genes, Recessive/genetics , Genetic Diseases, X-Linked/genetics , Genetic Predisposition to Disease/genetics , Genetic Testing , Genotype , Humans , Inheritance Patterns/genetics , Magnetic Resonance Imaging , Male , Middle Aged , Mutation/genetics , PhenotypeABSTRACT
We report 3 sisters treated for cerebrotendinous xanthomatosis. We treated one, with a severe neurologic form of the illness, with chenodeoxycholic acid, then lovastatin and simvastatin. These drugs had different efficacy and tolerance, but induced no clinical improvement. Her sisters, without neurologic symptoms, received chenodeoxycholic acid, which normalized the cholestanol level. Optimal treatment of this illness must begin before there is significant clinical symptomatology.
Subject(s)
Brain Diseases/drug therapy , Chenodeoxycholic Acid/therapeutic use , Lovastatin/analogs & derivatives , Lovastatin/therapeutic use , Tendons , Xanthomatosis/drug therapy , Adult , Anticholesteremic Agents/therapeutic use , Brain Diseases/diagnostic imaging , Brain Diseases/genetics , Female , Humans , Muscular Diseases/diagnostic imaging , Muscular Diseases/drug therapy , Muscular Diseases/genetics , Simvastatin , Tomography, X-Ray Computed , Xanthomatosis/diagnostic imaging , Xanthomatosis/geneticsSubject(s)
Arteriovenous Malformations/complications , Cerebral Veins/abnormalities , Exophthalmos/etiology , Eye/blood supply , Adult , Angioplasty, Balloon , Arteriovenous Malformations/diagnostic imaging , Cerebral Veins/diagnostic imaging , Exophthalmos/physiopathology , Exophthalmos/therapy , Humans , Male , Radiography , VeinsABSTRACT
Over a 20 months' period, 230 patients were treated in an intensive care unit for acute cerebral vascular accident. There were 157 ischaemic accidents and 73 haemorrhages. The mean age of the patients was 61.7 years. Mechanical ventilation was used in a quarter of the cases, and tracheotomy was performed in 7%. Surgery was considered necessary in only less than 5%. The overall mortality in the unit was 20% for patients with established ischaemia and 44% for those with cerebral haemorrhage. After 6 months, 64% of patients with ischaemia and 44% of patients with haemorrhage were still alive; 82% were independent, usually without sequelae, and 6% were bed-ridden; 15% of those who had mechanical ventilation survived. Prognostic factors are analyzed and the role of intensive care units in the management of cerebral vascular accidents is discussed.