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BACKGROUND/AIMS Wilson disease is caused by a large number of different mutations in the ATP7B gene. Wilson disease patients from a homogeneous ethnical background (Saxonia) were studied for distribution and phenotypes of ATP7B mutations. METHODS Eighty-two patients were analyzed. The H1069Q mutation was assayed by a polymerase chain reaction-based(More)
PURPOSE To gain further insight into the pathogenesis of progressive facial hemiatrophy, a sporadic disease of unclear etiology characterized by shrinking and deformation of one side of the face. METHODS We investigated possible brain involvement. MR of the head and face was performed in three female patients with progressive facial hemiatrophy. The(More)
Sirs: Aceruloplasminemia is a rare neurodegenerative disease which is caused by homozygous mutations in the ceruloplasmin gene [8]. Apart from cerebellar and extrapyramidal movement disorders as well as dementia, affected patients have also presented with adultonset diabetes mellitus and retinal degeneration. Patients with heterozygous mutations in the(More)
Diagnosis, long-term management and family investigations of Wilson's disease are provided by selected clinical institutions in the GDR. From 187 patients detected since 1949, 111 are alive. In spite of the principal effectiveness of penicillamine treatment, confirmed by the disappearance of most of the central nervous system symptoms and successful(More)
Proximal myotonic myopathy/myotonic dystrophy type 2 (PROMM/DM 2) is caused by an expansion of the (TG)n(TCTG)n(CCTG)n repeat tract in intron 1 of the ZNF9 gene located on chromosome 3q21. Because these expansions show a marked mitotic instability, expanded alleles are often difficult to detect. In order to improve the diagnostic procedure, we applied a(More)
Several cases of internuclear ophthalmoplegia were observed within a relatively short period of time. Incidence and occurence conformed favorably to data reported in the literature. The unilateral form of the disease should be of special interest because of the concomitant neurological symptoms which may provide additional support for the current concept(More)
Progressive facial hemiatrophy (PFH) is a sporadic disease of unknown etiology. It is characterized by shrinking and deformation of one side of the face. Potential CNS involvement has repeatedly been suspected in some patients, but is still a matter of controversy. In this article we describe the clinical and MR imaging findings of the CNS in three female(More)