Hot cross bun sign in a Peruvian patient with spinocerebellar ataxia type 2: A case report
DOI:
https://doi.org/10.20453/rnp.v86i3.4561Keywords:
Hot Cross Bun Sign, SCA2, spinocerebellar ataxia type 2, PeruAbstract
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant inherited neurodegenerative disease, caused by an abnormal CAG trinucleotide expansion in the ATXN2 gene. SCA2 usually occurs in adulthood, with progressive ataxia associated with peripheral neuropathy, impaired eye movements, parkinsonism, and other symptoms. Auxiliary exams include biochemical tests, neuroimaging such as brain MRI, and a molecular genetic study. We describe, for the first time in the Peruvian population, the case of a middle-aged woman with a confirmed diagnosis of SCA2, whose brain MRI shows the “Hot Cross Bun Sign”.
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References
Scoles DR, Pulst SM. Spinocerebellar ataxia type 2. En: Nóbrega C, Pereira de Almeida L, editores.
Polyglutamine Disorders [Internet]. Nueva York: Springer; 2018. pp. 175-195. Disponible en:https://link.
springer.com/chapter/10.1007/978-3-319-71779-1_8
Rodríguez-Labrada R, Velázquez-Pérez L. Alteraciones de los movimientos oculares sacádicos en las enfermedades poliglutamínicas. Rev Mex Neuroci [Internet]. 2013; 14(3): 150158. Disponible
en: https://www.medigraphic.com/pdfs/revmexneu/ rmn-2013/rmn133g.pdf
Velázquez-Pérez L, Hernández-Hernández O, LeyvaGarcía N, Cortés H, Cisneros B, Magaña JJ. Ataxia
espinocerebelosa tipo 2 (parte A): epidemiología y características clínicas y genéticas. Investigación
en Discapacidad [Internet]. 2014; 3(3): 114-122. Disponible en: https://www.medigraphic.com/cgibin/new/resumen.cgi?IDARTICULO=52852
Teive HAG, Meira AT, Camargo CHF, Munhoz RP. The geographic diversity of spinocerebellar
ataxias (SCAs) in the Americas: a systematic review. Mov Disord Clin Pract [Internet]. 2019; 6(7): 531-
Disponible en: https://movementdisorders. onlinelibrary.wiley.com/doi/10.1002/mdc3.12822
Meira AT, Arruda WO, Ono SE, Neto A de C, Raskin S, Camargo CHF, et al. Neuroradiological findings in
the spinocerebellar ataxias. Tremor Other Hyperkinet Mov [Internet]. 2019; 9: 1-8. Disponible en: https:// tremorjournal.org/articles/10.5334/tohm.516
Way C, Pettersson D, Hiller A. The ‘hot cross bun’ sign is not always multiple system atrophy: etiologies
of 11 cases. J Mov Disord [Internet]. 2019; 12(1): 27-30. Disponible en: https://www.e-jmd.org/journal/
view.php?doi=10.14802/jmd.18031
Naidoo AK, Wells CLD, Rugbeer Y, Naidoo N. The «hot cross bun sign» in spinocerebellar ataxia
types 2 and 7-case reports and review of literature. Mov Disord Clin Pract [Internet]. 2022; 9(8): 1105-
Disponible en: https://movementdisorders. onlinelibrary.wiley.com/doi/full/10.1002/mdc3.13550
Prasad S, Rossi M. The hot cross bun sign: a journey across etiologies. Mov Disord Clin Pract
[Internet]. 2022; 9(8): 1018-1020. Disponible en: https://movementdisorders.onlinelibrary.wiley.com/
doi/10.1002/mdc3.13596
Waïs A, Wilson B, Raïssa K, Meryem F, Najwa EK, Mohamed J, et al. Hot cross bun sign in
multisystematized atrophy: the cerebellar form «HCB in MSA-c». Austin J Radiol [Internet]. 2021; 8(3): 2.
Disponible en: https://austinpublishinggroup.com/ radiology/fulltext/ajr-v8-id1179.pdf
Morales Saute JA, Carvalho Donis K, SerranoMunuera C, Genis D, Torres Ramirez L, Mazzetti P, et al. Ataxia rating scales--psychometric profiles, natural history and their application in clinical trials. Cerebellum [Internet]. 2012; 11(2): 488-
Disponible en: https://link.springer.com/ article/10.1007/s12311-011-0316-8
Levantesi L, de Cosmo G, Logroscino G, Saracco M. Recurrent postoperative delirium in spinocerebellar ataxia type 2: a case report. J Med Case Reports [Internet]. 2019; 13: 112. Disponible en: https://jmedicalcasereports.biomedcentral.com/ articles/10.1186/s13256-019-2040-9
Rosini F, Pretegiani E, Battisti C, Dotti MT, Federico A, Rufa A. Eye movement changes in autosomal
dominant spinocerebellar ataxias. Neurol Sci [Internet]. 2020; 41(7): 1719-1734. Disponible en:
https://link.springer.com/article/10.1007/s10072- 020-04318-4
Geiner S, Horn AKE, Wadia NH, Sakai H, Büttner-Ennever JA. The neuroanatomical basis of slow saccades in spinocerebellar ataxia type 2 (Wadia-subtype). Prog Brain Res [Internet]. 2008; 171: 575-581. Disponible en: https:// www.sciencedirect.com/science/article/abs/pii/
S0079612308006833?via%3Dihub
Gierga K, Bürk K, Bauer M, Orozco Diaz G, Auburger G, Schultz C, et al. Involvement of the cranial nerves
and their nuclei in spinocerebellar ataxia type 2 (SCA2). Acta Neuropathol [Internet]. 2005; 109(6):
-631. Disponible en: https://link.springer.com/ article/10.1007/s00401-005-1014-8
Highley JR, Pons AL, Cooper-Knock J, Wharton SB, Ince PG, Shaw PJ, et al. Motor neurone disease/
amyotrophic lateral sclerosis associated with intermediate-length CAG repeat expansions in
ataxin-2 does not have 1C2-positive polyglutamine inclusions. Neuropathol Appl Neurobiol [Internet].
; 42(4): 377-389. Disponible en: https:// onlinelibrary.wiley.com/doi/10.1111/nan.12254
Antenora A, Rinaldi C, Roca A, Pane C, Lieto M, Saccà F, et al. The multiple faces of spinocerebellar
ataxia type 2. Ann Clin Transl Neurol [Internet]. 2017; 4(9): 687-695. Disponible en: https://onlinelibrary.
wiley.com/doi/10.1002/acn3.437
Gispert S, Kurz A, Waibel S, Bauer P, Liepelt I, Geisen C, et al. The modulation of amyotrophic lateral
sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect. Neurobiol Dis
[Internet]. 2012; 45(1): 356-361. Disponible en: https://www.sciencedirect.com/science/article/abs/
pii/S0969996111002877?via%3Dihub
Casse F, Courtin T, Tesson C, Ferrien M, Noël S, Fauret-Amsellem A-L, et al. Detection of ATXN2
expansions in an exome dataset: an underdiagnosed cause of parkinsonism. Mov Disord Clin Pract
[Internet]. 2023; 10(4): 664-669. Disponible en: https://movementdisorders.onlinelibrary.wiley.com/
doi/full/10.1002/mdc3.13699
Lee YC, Liu CS, Wu HM, Wang PS, Chang MH, Soong BW. The ‘hot cross bun’ sign in the patients
with spinocerebellar ataxia. Eur J Neurol [Internet]. 2009; 16(4): 513-516. https://onlinelibrary.wiley.
com/doi/10.1111/j.1468-1331.2008.02524.x
Muqit MM, Mort D, Miszkiel KA, Shakir RA. «Hot cross bun» sign in a patient with parkinsonism
secondary to presumed vasculitis. J Neurol Neurosurg Psychiatry [Internet]. 2001; 71(4):
-566. Disponible en: https://jnnp.bmj.com/ content/71/4/565
Zhu S, Deng B, Huang Z, Chang Z, Li H, Liu H, et al. «Hot cross bun» is a potential imaging marker for
the severity of cerebellar ataxia in MSA-C. NPJ Park Dis [Internet]. 2021; 7(1): 15. Disponible en: https://
www.nature.com/articles/s41531-021-00159-w
Zhu S, Li H, Deng B, Zheng J, Huang Z, Chang Z, et al. Various diseases and clinical heterogeneity
are associated with «hot cross bun». Front Aging Neurosci [Internet]. 2020; 12: 592212. Disponible
en: https://www.frontiersin.org/articles/10.3389/ fnagi.2020.592212/full