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dc.contributor.authorGilman, Siden_US
dc.contributor.authorSima, Anders A. F.en_US
dc.contributor.authorJunck, Larryen_US
dc.contributor.authorKluin, Karen J.en_US
dc.contributor.authorKoeppe, Robert A.en_US
dc.contributor.authorLohman, Mary E.en_US
dc.contributor.authorLittle, Roderick J. A.en_US
dc.date.accessioned2007-04-06T18:55:33Z
dc.date.available2007-04-06T18:55:33Z
dc.date.issued1996-02en_US
dc.identifier.citationGilman, 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.issn0364-5134en_US
dc.identifier.issn1531-8249en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/50359
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=8967756&dopt=citationen_US
dc.description.abstractSpinocerebellar 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.extent2321998 bytes
dc.format.extent3118 bytes
dc.format.mimetypeapplication/pdf
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dc.publisherWiley Subscription Services, Inc., A Wiley Companyen_US
dc.subject.otherLife and Medical Sciencesen_US
dc.subject.otherNeuroscience, Neurology, and Psychiatryen_US
dc.titleSpinocerebellar ataxia type 1 with multiple system degeneration and glial cytoplasmic inclusionsen_US
dc.typeArticleen_US
dc.rights.robotsIndexNoFollowen_US
dc.subject.hlbsecondlevelPsychiatryen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumDepartment 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 48109-0316en_US
dc.contributor.affiliationumDepartment of Pathology, University of Michigan, Ann Arbor, MI ; Department of Internal Medicine, University of Michigan, Ann Arbor, MIen_US
dc.contributor.affiliationumDepartment of Neurology, University of Michigan, Ann Arbor, MIen_US
dc.contributor.affiliationumDepartment of Neurology, University of Michigan, Ann Arbor, MI ; Division of Speech Pathology, Department of Physical Medicine and Rehabilitation, University of Michigan, Ann Arbor, MIen_US
dc.contributor.affiliationumDivision of Nuclear Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, MIen_US
dc.contributor.affiliationumDepartment of Neurology, University of Michigan, Ann Arbor, MIen_US
dc.contributor.affiliationumDepartment of Biostatistics, University of Michigan, Ann Arbor, MIen_US
dc.identifier.pmid8967756en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/50359/1/410390214_ftp.pdfen_US
dc.identifier.doihttp://dx.doi.org/10.1002/ana.410390214en_US
dc.identifier.sourceAnnals of Neurologyen_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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