Menu
×
West Ashley Library
9 a.m. - 7 p.m.
Phone: (843) 766-6635
Folly Beach Library
Closed
Phone: (843) 588-2001
Edgar Allan Poe/Sullivan's Island Library
Closed for renovations
Phone: (843) 883-3914
Wando Mount Pleasant Library
9 a.m. - 8 p.m.
Phone: (843) 805-6888
Village Library
9 a.m. - 1 p.m.
Phone: (843) 884-9741
St. Paul's/Hollywood Library
9 a.m. - 8 p.m.
Phone: (843) 889-3300
Otranto Road Library
9 a.m. - 8 p.m.
Phone: (843) 572-4094
Mt. Pleasant Library
9 a.m. - 8 p.m.
Phone: (843) 849-6161
McClellanville Library
9 a.m. - 6 p.m.
Phone: (843) 887-3699
Keith Summey North Charleston Library
9 a.m. - 8 p.m.
Phone: (843) 744-2489
John's Island Library
9 a.m. - 8 p.m.
Phone: (843) 559-1945
Hurd/St. Andrews Library
9 a.m. - 8 p.m.
Phone: (843) 766-2546
Miss Jane's Building (Edisto Library Temporary Location)
2 p.m. – 6 p.m.
Phone: (843) 869-2355
Dorchester Road Library
9 a.m. - 8 p.m.
Phone: (843) 552-6466
John L. Dart Library
9 a.m. - 7 p.m.
Phone: (843) 722-7550
Baxter-Patrick James Island
9 a.m. - 8 p.m.
Phone: (843) 795-6679
Main Library
9 a.m. - 8 p.m.
Phone: (843) 805-6930
Bees Ferry West Ashley Library
9 a.m. - 8 p.m.
Phone: (843) 805-6892
Mobile Library
9 a.m. - 5 p.m.
Phone: (843) 805-6909
Today's Hours
West Ashley Library
9 a.m. - 7 p.m.
Phone: (843) 766-6635
Folly Beach Library
Closed
Phone: (843) 588-2001
Edgar Allan Poe/Sullivan's Island Library
Closed for renovations
Phone: (843) 883-3914
Wando Mount Pleasant Library
9 a.m. - 8 p.m.
Phone: (843) 805-6888
Village Library
9 a.m. - 1 p.m.
Phone: (843) 884-9741
St. Paul's/Hollywood Library
9 a.m. - 8 p.m.
Phone: (843) 889-3300
Otranto Road Library
9 a.m. - 8 p.m.
Phone: (843) 572-4094
Mt. Pleasant Library
9 a.m. - 8 p.m.
Phone: (843) 849-6161
McClellanville Library
9 a.m. - 6 p.m.
Phone: (843) 887-3699
Keith Summey North Charleston Library
9 a.m. - 8 p.m.
Phone: (843) 744-2489
John's Island Library
9 a.m. - 8 p.m.
Phone: (843) 559-1945
Hurd/St. Andrews Library
9 a.m. - 8 p.m.
Phone: (843) 766-2546
Miss Jane's Building (Edisto Library Temporary Location)
2 p.m. – 6 p.m.
Phone: (843) 869-2355
Dorchester Road Library
9 a.m. - 8 p.m.
Phone: (843) 552-6466
John L. Dart Library
9 a.m. - 7 p.m.
Phone: (843) 722-7550
Baxter-Patrick James Island
9 a.m. - 8 p.m.
Phone: (843) 795-6679
Main Library
9 a.m. - 8 p.m.
Phone: (843) 805-6930
Bees Ferry West Ashley Library
9 a.m. - 8 p.m.
Phone: (843) 805-6892
Mobile Library
9 a.m. - 5 p.m.
Phone: (843) 805-6909
Patron Login
menu
Item request has been placed!
×
Item request cannot be made.
×
Processing Request
Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG-PET presentation in spinocerebellar ataxia 17: a case report.
Item request has been placed!
×
Item request cannot be made.
×
Processing Request
- Author(s): Grassini, Alberto (AUTHOR); Cermelli, Aurora (AUTHOR); Roveta, Fausto (AUTHOR); Zotta, Michela (AUTHOR); Lesca, Adriana (AUTHOR); Marcinnò, Andrea (AUTHOR); Ferrandes, Fabio (AUTHOR); Piella, Elisa (AUTHOR); Boschi, Silvia (AUTHOR); Lombardo, Chiara (AUTHOR); Brusco, Alfredo (AUTHOR); Gallone, Salvatore (AUTHOR); Rubino, Elisa (AUTHOR); Bruni, Amalia (AUTHOR); Rainero, Innocenzo (AUTHOR)
- Source:
Neurological Sciences. Jun2024, Vol. 45 Issue 6, p2877-2880. 4p. - Source:
- Additional Information
- Subject Terms:
- Abstract: Background: Spinocerebellar ataxia 17 (SCA17) is a rare autosomal dominant form of inherited ataxia, caused by heterozygous trinucleotide repeat expansions encoding glutamine in the TATA box-binding protein (TBP) gene. Case description: We describe the clinical history, neuropsychological, and neuroimaging findings of a 42-year-old patient who presented for medical attention showing prevalent behavioral and cognitive problems along with progressively worsening gait disturbances. The patient's family history indicated the presence of SCA17 in the maternal lineage. Genetic analysis confirmed a heterozygous 52-CAG pathological expansion repeat in TBP (normal interval, 25–40 CAG. Brain 18-fluorodeoxyglucose positron emission tomography (FDG-PET) showed bilateral hypometabolism in the sensorimotor cortex, with a slight predominance on the right, as well as in the striatal nuclei and thalamic hypermetabolism, a finding similar to what is observed in Huntington's disease. The patient also underwent neuropsychological evaluation, which revealed mild cognitive impairment and difficulties in social interaction and understanding other's emotions (Faux Pas Test and Reading the Mind in the Eyes Test). Conclusion: Our report emphasizes the importance of considering SCA17 as a possible diagnosis in patients with a prevalent progressive cognitive and behavioral disorders, even with a pattern of FDG-PET hypometabolism not primarily indicative of this disease. [ABSTRACT FROM AUTHOR]
- Abstract: Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Contact CCPL
Copyright 2022 Charleston County Public Library Powered By EBSCO Stacks 3.3.0 [350.3] | Staff Login
No Comments.