Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG-PET presentation in spinocerebellar ataxia 17: a case report.

Autor: Grassini A; Aging Brain and Memory Clinic, Department of Neuroscience, 'Rita Levi Montalcini', Memory Clinic, University of Torino, Via Cherasco 15, 10126, Turin, Italy. alberto.grassini@unito.it., Cermelli A; Aging Brain and Memory Clinic, Department of Neuroscience, 'Rita Levi Montalcini', Memory Clinic, University of Torino, Via Cherasco 15, 10126, Turin, Italy., Roveta F; Aging Brain and Memory Clinic, Department of Neuroscience, 'Rita Levi Montalcini', Memory Clinic, University of Torino, Via Cherasco 15, 10126, Turin, Italy., Zotta M; Nuclear Medicine, Città Della Salute E Della Scienza University Hospital, Turin, Italy., Lesca A; Nuclear Medicine, Città Della Salute E Della Scienza University Hospital, Turin, Italy., Marcinnò A; Aging Brain and Memory Clinic, Department of Neuroscience, 'Rita Levi Montalcini', Memory Clinic, University of Torino, Via Cherasco 15, 10126, Turin, Italy., Ferrandes F; Aging Brain and Memory Clinic, Department of Neuroscience, 'Rita Levi Montalcini', Memory Clinic, University of Torino, Via Cherasco 15, 10126, Turin, Italy., Piella E; Aging Brain and Memory Clinic, Department of Neuroscience, 'Rita Levi Montalcini', Memory Clinic, University of Torino, Via Cherasco 15, 10126, Turin, Italy., Boschi S; Aging Brain and Memory Clinic, Department of Neuroscience, 'Rita Levi Montalcini', Memory Clinic, University of Torino, Via Cherasco 15, 10126, Turin, Italy., Lombardo C; Aging Brain and Memory Clinic, Department of Neuroscience, 'Rita Levi Montalcini', Memory Clinic, University of Torino, Via Cherasco 15, 10126, Turin, Italy., Brusco A; Department of Neuroscience and Mental Health, Città Della Salute E Della Scienza University Hospital, Turin, Italy.; Medical Genetics Unit, Città Della Salute E Della Scienza University Hospital, Turin, Italy., Gallone S; Department of Neuroscience and Mental Health, Città Della Salute E Della Scienza University Hospital, Turin, Italy., Rubino E; Aging Brain and Memory Clinic, Department of Neuroscience, 'Rita Levi Montalcini', Memory Clinic, University of Torino, Via Cherasco 15, 10126, Turin, Italy.; Department of Neuroscience and Mental Health, Città Della Salute E Della Scienza University Hospital, Turin, Italy., Bruni A; Regional Neurogenetic Centre, Department of Primary Care, ASP Catanzaro, Lamezia Terme, Italy., Rainero I; Aging Brain and Memory Clinic, Department of Neuroscience, 'Rita Levi Montalcini', Memory Clinic, University of Torino, Via Cherasco 15, 10126, Turin, Italy.; Department of Neuroscience and Mental Health, Città Della Salute E Della Scienza University Hospital, Turin, Italy.
Jazyk: angličtina
Zdroj: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2024 Jun; Vol. 45 (6), pp. 2877-2880. Date of Electronic Publication: 2024 Mar 18.
DOI: 10.1007/s10072-024-07453-4
Abstrakt: 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.
(© 2024. Fondazione Società Italiana di Neurologia.)
Databáze: MEDLINE
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