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
| Autor: | Thomas Deller, Ewout R. Brunt, A. R. La Spada, M. Kettner, C. M. Mooy, R. A. I. de Vos, Udo Rüb, I. Bechmann, C. Van Broeckhoven, Kay Seidel, W. F. A. den Dunnen, Ludger Schöls, K. Gierga |
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| Přispěvatelé: | Pathology |
| Rok vydání: | 2008 |
| Předmět: |
Adult
Male medicine.medical_specialty CENTRAL SOMATOSENSORY SYSTEM Histology PRECEREBELLAR NUCLEI Vision Disorders TYPE-2 SCA2 Nerve Tissue Proteins Brain damage Audiology Retina NEURONAL INTRANUCLEAR INCLUSIONS Pathology and Forensic Medicine Central nervous system disease DOMINANT CEREBELLAR-ATAXIA Dysarthria Degenerative disease GENETIC-ANALYSIS CENTRAL VESTIBULAR SYSTEM RETINAL DEGENERATION Physiology (medical) medicine Humans Age of Onset Aged spinocerebellar ataxias Inclusion Bodies Cerebellar ataxia MACHADO-JOSEPH-DISEASE business.industry Limb ataxia Brain ataxin-7 Middle Aged REPEAT EXPANSION medicine.disease Pedigree pathoanatomy Neurology Spinocerebellar ataxia Female polyglutamine diseases Neurology (clinical) medicine.symptom autosomal dominant cerebellar ataxias business Machado–Joseph disease |
| Zdroj: | Neuropathology and Applied Neurobiology, 34(2), 155-168. Wiley-Blackwell Publishing Ltd Neuropathology and Applied Neurobiology, 34(2), 155-168. WILEY-BLACKWELL Neuropathology and applied neurobiology |
| ISSN: | 1365-2990 0305-1846 |
| DOI: | 10.1111/j.1365-2990.2007.00882.x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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