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18-03-2024 | Spinocerebellar Ataxia | Brief Communication

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

Authors: Alberto Grassini, Aurora Cermelli, Fausto Roveta, Michela Zotta, Adriana Lesca, Andrea Marcinnò, Fabio Ferrandes, Elisa Piella, Silvia Boschi, Chiara Lombardo, Alfredo Brusco, Salvatore Gallone, Elisa Rubino, Amalia Bruni, Innocenzo Rainero

Published in: Neurological Sciences | Issue 6/2024

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.

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Toyoshima Y, Takahashi H (2018) Spinocerebellar ataxia type 17 (SCA17). Adv Exp Med Biol 1049:219–231. https://doi.org/10.1007/978-3-319-71779-1_10CrossRefPubMed

Paoletti FP, Prontera P, Nigro P et al (2021) Smalle-xpanded allele spinocerebellar ataxia 17: imaging and phenotypic variability. Neurol Sci 42:4309–4315. https://doi.org/10.1007/s10072-021-05313-zCrossRef

Magri S, Nanetti L, Gellera C et al (2022) Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48. Genet Med 24(1):29–40. https://doi.org/10.1016/j.gim.2021.08.003CrossRefPubMed

Barbier M, Davoine C-S, Petit E et al (2023) Intermediate repeat expansions of TBP and STUB1: genetic modifier or pure digenic inheritance in spinocerebellar ataxias? Genet Med 25(2):100327. https://doi.org/10.1016/j.gim.2022.10.009CrossRefPubMed

Lorenzo Nanetti L, Magri S, Fichera M et al (2023) Complex ataxia-dementia phenotype in patients with digenic TBP/STUB1 spinocerebellar ataxia. Mov Disord 38(4):665–675. https://doi.org/10.1002/mds.29352CrossRefPubMed

Gregory C, Lough S, Stone V et al (2002) Theory of mind in patients with frontal variant frontotemporal dementia and Alzheimer’s disease: theoretical and practical implications. Brain 125:752–764. https://doi.org/10.1093/brain/awf079CrossRefPubMed

Maddaluno O, Aiello EN, Roncoroni C et al (2022) The reading the mind in the eyes test, Iowa gambling task, and interpersonal reactivity index: normative data in an Italian population sample. Archives of Clinical Neuropsychology 37:929–938. https://doi.org/10.1093/arclin/acab100CrossRefPubMed

Brockmann K, Reimold M, Globas C et al (2012) PET and MRI reveal early evidence of neurodegeneration in spinocerebellar ataxia type 17. J Nucl Med 53:1074–1080. https://doi.org/10.2967/jnumed.111.101543CrossRefPubMed

Olszewska DA, Fallon EM, Pastores GM et al (2019) Autosomal dominant gene negative frontotemporal dementia-think of SCA17. The Cerebellum 18:654–658. https://doi.org/10.1007/s12311-018-0998-2CrossRefPubMed

10.

Stevanin G, Bryce A (2008) Spinocerebellar ataxia 17 (SCA17) and Huntington’s disease-like 4 (HDL4). The Cerebellum 7(2):170–178. https://doi.org/10.1007/s12311-008-0016-1CrossRefPubMed

11.

Lin I-S, Wu R-M, Lee-Chen G-J et al (2007) The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment. Parkinsonism Relat Disord 13(4):246–9. https://doi.org/10.1016/j.parkreldis.2006.04.009CrossRefPubMed

12.

Mariotti C, Alpini D, Fancellu R et al (2007) Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients. J Neurol 254(11):1538–1546. https://doi.org/10.1007/s00415-007-0579-7CrossRefPubMed

13.

Nielsen TT, Mardosiene S, Løkkegaard A et al (2012) Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: a case report. BMC Neurol. 12:73. https://doi.org/10.1186/1471-2377-12-73CrossRefPubMedPubMedCentral

14.

Formica C, Bonanno L, Todaro A et al (2020) The role of mind theory in patients affected by neurodegenerative disorders and impact on caregiver burden. J Clin Neurosci 78:291–295. https://doi.org/10.1016/j.jocn.2020.05.028CrossRefPubMed

15.

Schmahmann JD, Sherman JC (1998) The cerebellar cognitive affective syndrome. Brain 121:561–579. https://doi.org/10.1093/brain/121.4.561CrossRefPubMed

16.

Giocondo F, Curcio G (2018) Spinocerebellar ataxia: a critical review of cognitive and socio cognitive deficits. Int J Neurosci 128(2):182–191. https://doi.org/10.1080/00207454.2017.1377198CrossRefPubMed

17.

García M, Rouco-Axpe I, Amayra I et al (2022) Neuropsychological profile of hereditary ataxias: study of 38 patients. Arch Clin Neuropsychol 37(5):904–915. https://doi.org/10.1093/arclin/acac024CrossRefPubMed

Title: Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG-PET presentation in spinocerebellar ataxia 17: a case report
Authors: Alberto Grassini
Aurora Cermelli
Fausto Roveta
Michela Zotta
Adriana Lesca
Andrea Marcinnò
Fabio Ferrandes
Elisa Piella
Silvia Boschi
Chiara Lombardo
Alfredo Brusco
Salvatore Gallone
Elisa Rubino
Amalia Bruni
Innocenzo Rainero
Publication date: 18-03-2024
Publisher: Springer International Publishing
Keywords: Spinocerebellar Ataxia
Huntington's Disease
Positron Emission Tomography
Published in: Neurological Sciences / Issue 6/2024
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-024-07453-4

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Background

Case description

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case description

Conclusion

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