Spinocerebellar ataxia type 1 with multiple system degeneration and glial cytoplasmic inclusions
dc.contributor.author | Gilman, Sid | en_US |
dc.contributor.author | Sima, Anders A. F. | en_US |
dc.contributor.author | Junck, Larry | en_US |
dc.contributor.author | Kluin, Karen J. | en_US |
dc.contributor.author | Koeppe, Robert A. | en_US |
dc.contributor.author | Lohman, Mary E. | en_US |
dc.contributor.author | Little, Roderick J. A. | en_US |
dc.date.accessioned | 2007-04-06T18:55:33Z | |
dc.date.available | 2007-04-06T18:55:33Z | |
dc.date.issued | 1996-02 | en_US |
dc.identifier.citation | Gilman, Sid; Sima, Anders A. F.; Junck, Larry; Kluin, Karen J.; Koeppe, Robert A.; Lohman, Mary E.; Little, Roderick (1996)."Spinocerebellar ataxia type 1 with multiple system degeneration and glial cytoplasmic inclusions." Annals of Neurology 39(2): 241-255. <http://hdl.handle.net/2027.42/50359> | en_US |
dc.identifier.issn | 0364-5134 | en_US |
dc.identifier.issn | 1531-8249 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/50359 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=8967756&dopt=citation | en_US |
dc.description.abstract | Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited progressive neurological disorder characterized by neuronal degeneration and reactive gliosis in the cerebellum, brainstem, spinocerebellar tracts, and dorsal columns. Multiple system atrophy is a sporadic progressive neurological disorder with degeneration and gliosis in the basal ganglia, cerebellum, brainstem, and spinal autonomic nuclei, and with argyrophilic glial cytoplasmic inclusions. We describe 4 members of a family with the SCAl mutation and a dominantly inherited progressive ataxia in which autopsy examination of 1 member showed neuropathological changes typical of multiple system atrophy, including glial cytoplasmic inclusions. In this patient, magnetic resonance imaging revealed marked brainstem and cerebellar volume loss and mild supratentorial generalized volume loss. Positron emission tomography with [ 18 F]fluorodeoxyglucose revealed widespread hypometabolism in a pattern found in sporadic multiple system atrophy and not in dominantly inherited olivopontocerebellar atrophy. Positron emission tomography with [ ll C]flumazenil revealed normal benzodiazepine receptor distribution volumes, similar to those seen in sporadic multiple system atrophy. Two other family members still living had similar changes in the imaging studies. The findings in this family suggest that the SCAl gene mutation can result in a disorder similar to multiple system atrophy, both clinically and neuropathologically. | en_US |
dc.format.extent | 2321998 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Neuroscience, Neurology, and Psychiatry | en_US |
dc.title | Spinocerebellar ataxia type 1 with multiple system degeneration and glial cytoplasmic inclusions | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Psychiatry | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Neurology, University of Michigan, Ann Arbor, MI ; Department of Neurology, Universiry of Michigan Medical Center, Taubman center 1914/0316, 1500 East Medical Center Drive, Ann Arbor, MI 48109-0316 | en_US |
dc.contributor.affiliationum | Department of Pathology, University of Michigan, Ann Arbor, MI ; Department of Internal Medicine, University of Michigan, Ann Arbor, MI | en_US |
dc.contributor.affiliationum | Department of Neurology, University of Michigan, Ann Arbor, MI | en_US |
dc.contributor.affiliationum | Department of Neurology, University of Michigan, Ann Arbor, MI ; Division of Speech Pathology, Department of Physical Medicine and Rehabilitation, University of Michigan, Ann Arbor, MI | en_US |
dc.contributor.affiliationum | Division of Nuclear Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, MI | en_US |
dc.contributor.affiliationum | Department of Neurology, University of Michigan, Ann Arbor, MI | en_US |
dc.contributor.affiliationum | Department of Biostatistics, University of Michigan, Ann Arbor, MI | en_US |
dc.identifier.pmid | 8967756 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/50359/1/410390214_ftp.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1002/ana.410390214 | en_US |
dc.identifier.source | Annals of Neurology | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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