Spinocerebellar ataxia type 7 (SCA7): widespread brain damage in an adult-onset patient with progressive visual impairments in comparison with an adult-onset patient without visual impairments |
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| Authors: | Rüb U Brunt E R Seidel K Gierga K Mooy C M Kettner M Van Broeckhoven C Bechmann I La Spada A R Schöls L den Dunnen W de Vos R A I Deller T |
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| Affiliation: | Institute for Clinical Neuroanatomy, J. W. Goethe-University, Frankfurt/Main, Germany;;Department of Neurology, University Medical Center Groningen, University of Groningen,Groningen, the Netherlands;;Pathology Laboratory Dordrecht, Dordrecht, the Netherlands;;Center of Legal Medicine, Institute for Forensic Medicine, J. W. Goethe-University, Frankfurt/Main, Germany;;Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB,;University of Antwerp, Antwerp, Belgium;;Department of Laboratory Medicine, University of Washington Medical Center Seattle, Seattle, WA, USA;;Center of Neurology and Hertie-Institute for Clinical Brain Research University of Tübingen, Tübingen, Germany;;Department of Pathology and Laboratory Medicine, University Medical Center Groningen, Groningen, the Netherlands;and;Laboratorium Pathologie Oost Nederland, Enschede, the Netherlands |
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| Abstract: | ![]()
Spinocerebellar ataxia type 7 (SCA7) represents a rare and severe autosomal dominantly inherited ataxic disorder and is among the known CAG-repeat, or polyglutamine, diseases. In contrast to other currently known autosomal dominantly inherited ataxic disorders, SCA7 may manifest itself with different clinical courses. Because the degenerative changes evolving during these different clinical courses are not well known, many neurological disease symptoms still are unexplained. We performed an initial pathoanatomical study on unconventional thick tissue sections of the brain of a clinically diagnosed and genetically confirmed adult-onset SCA7 patient with progressive visual impairments. In this patient we observed loss of myelinated fibres in distinct central nervous fibre tracts, and widespread degeneration of the cerebellum, telencephalon, diencephalon and lower brainstem. These degenerative changes offer appropriate explanations for a variety of less-understood neurological symptoms in adult-onset SCA7 patients with visual impairments: gait, stance and limb ataxia, falls, dysarthria, dysphagia, pyramidal signs, Parkinsonian features, writing problems, impairments of saccades and smooth pursuits, altered pupillary functions, somatosensory deficits, auditory deficits and mental impairments. |
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| Keywords: | ataxin-7 autosomal dominant cerebellar ataxias pathoanatomy polyglutamine diseases spinocerebellar ataxias |
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