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The first case report of spinocerebellar ataxia type-40 in India: novel phenotypic and radiological (bilateral olivary degeneration) features and a comprehensive review of this remarkable radiological sign

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References

  1. Tsoi H, Yu AC, Chen ZS, Ng NK, Chan AY, Yuen LY et al (2014) A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia. J Med Genet 51:590–595. https://doi.org/10.1136/jmedgenet-2014-102333

    Article  CAS  PubMed  Google Scholar 

  2. Han F, Su D, Qu C (2021) Spinocerebellar ataxia type 40: a case report and literature review. Transl Neurosci 12:379–384. https://doi.org/10.1515/tnsci-2020-0190

    Article  PubMed  PubMed Central  Google Scholar 

  3. Leńska-Mieciek M, Charzewska A, Królicki L, Hoffman-Zacharska D, Chen ZS, Lau KF et al (2019) Familial ataxia, tremor, and dementia in a Polish family with a novel mutation in the CCDC88C gene. Mov Disord 34:142–144. https://doi.org/10.1002/mds.27536

    Article  PubMed  Google Scholar 

  4. Yahia A, Chen ZS, Ahmed AE, Emad S, Adil R, Abubaker R et al (2021) A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report. BMC Neurol 21(1):78. https://doi.org/10.1186/s12883-021-02113-y

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Guo JJ, Wang ZY, Zhang S, Wang DL, Tian L, Liu JY, Zhu H (2021) Paroxysmal limbs jitter accompanied by different imaging findings in a Chinese family with spinocerebellar ataxia 40: Clinical and neuroimaging studies. Neuro Endocrinol Lett 42(4):215–221

    PubMed  Google Scholar 

  6. 1000 Genomes Project Consortium, Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR (2015) A global reference for human genetic variation. Nature 526(7571):68–74. https://doi.org/10.1038/nature15393

  7. Landrum MJ, Lee JM, Benson M, Brown G, Chao C, Chitipiralla S, Gu B, Hart J, Hoffman D, Hoover J, Jang W, Katz K, Ovetsky M, Riley G, Sethi A, Tully R, Villamarin-Salomon R, Rubinstein W, Maglott DR (2016) ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res 44(D1):D862–D868. https://doi.org/10.1093/nar/gkv1222

    Article  CAS  PubMed  Google Scholar 

  8. Klaes A, Reckziegel E, Franca MC Jr, Rezende TJ, Vedolin LM, Jardim LB, Saute JA (2016) MR Imaging in spinocerebellar ataxias: a systematic review. AJNR Am J Neuroradiol 37(8):1405–1412. https://doi.org/10.3174/ajnr.A4760

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Anderson JR, Treip CS (1973) Hypertrophic olivary degeneration and Purkinje cell degeneration in a case of long-standing head injury. J Neurol Neurosurg Psychiatry 36(5):826–832. https://doi.org/10.1136/jnnp.36.5.826

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Morioka E, Kuroda S, Kuyama K, Otsuki S, Hosokawa K, Namba R (1987) An autopsy case of multiple system atrophy with many Lewy bodies--striatonigral degeneration, olivo-ponto-cerebellar atrophy and autonomic nerve nucleus involvement in the spinal cord. No To Shinkei 39(4):361–6. Japanese

  11. Kobayashi K, Kurachi M, Gyoubu T, Fukutani Y, Inao G, Nakamura I, Yamaguchi N (1990) Progressive dysphasic dementia with localized cerebral atrophy: report of an autopsy. Clin Neuropathol 9(5):254–261

    CAS  PubMed  Google Scholar 

  12. Uchino A, Hasuo K, Uchida K, Matsumoto S, Tsukamoto Y, Ohno M et al (1993) Olivary degeneration after cerebellar or brain stem haemorrhage: MRI. Neuroradiology 35:335–338. https://doi.org/10.1007/BF00588362

    Article  CAS  PubMed  Google Scholar 

  13. Kitajima M, Korogi Y, Shimomura O, Sakamoto Y, Hirai T, Miyayama H, Takahashi M (1994) Hypertrophic olivary degeneration: MR imaging and pathologic findings. Radiology 192(2):539–543. https://doi.org/10.1148/radiology.192.2.8029428

    Article  CAS  PubMed  Google Scholar 

  14. Inagaki T, Ishino H, Seno H, Iijima M, Fujimoto A, Manou M, et al (1994) A case of neuro-Behçet’s disease with numerous hypertrophied and proliferated dendrites in the inferior olivary nucleus. No To Shinkei 46(12):1177–1183. Japanese

  15. Nakamura T, Yoritaka A, Sumino S, Suzuki H, Mori H, Suda K, et al (1997) A 70-year-old man with a progressive gait disturbance and gaze palsy. No To Shinkei 49(1):93–100. Japanese

  16. Suyama N, Kobayashi S, Isino H, Iijima M, Imaoka K (1997) Progressive supranuclear palsy with palatal myoclonus. Acta Neuropathol 94(3):290–293. https://doi.org/10.1007/s004010050706

    Article  CAS  PubMed  Google Scholar 

  17. Niizato K, Kuroki N, Arai T, Kase K, Iritani S, Ikeda K (1997) An elderly patient with progressive supranuclear palsy without neurological signs. No To Shinkei 49(9):829–833. Japanese

  18. Hanihara T, Amano N, Takahashi T, Itoh Y, Yagishita S (1998) Hypertrophy of the inferior olivary nucleus in patients with progressive supranuclear palsy. Eur Neurol 39(2):97–102. https://doi.org/10.1159/000007915

    Article  CAS  PubMed  Google Scholar 

  19. Suzuki M, Takashima T, Ueda F, Fujinaga Y, Horichi Y, Yamashita J (1999) Olivary degeneration after intracranial haemorrhage or trauma: follow-up MRI. Neuroradiology 41(1):9–12. https://doi.org/10.1007/s002340050695

    Article  CAS  PubMed  Google Scholar 

  20. Tsui EY, Cheung YK, Mok CK, Yuen MK, Chan JH (1999) Hypertrophic olivary degeneration following surgical excision of brainstem cavernous hemangioma: a case report. Clin Imaging 23(4):215–217. https://doi.org/10.1016/s0899-7071(99)00147-3

    Article  CAS  PubMed  Google Scholar 

  21. Rieder CR, Rebouças RG, Ferreira MP (2003) Holmes tremor in association with bilateral hypertrophic olivary degeneration and palatal tremor: chronological considerations. Case report. Arq Neuropsiquiatr 61(2B):473–477. https://doi.org/10.1590/s0004-282x2003000300028

    Article  PubMed  Google Scholar 

  22. Conforto AB, Smid J, Marie SK, Ciríaco JG, Santoro PP, Leite Cda C, Mansur LL, Scaff M (2005) Bilateral olivary hypertrophy after unilateral cerebellar infarction. Arq Neuropsiquiatr 63(2A):321–323. https://doi.org/10.1590/s0004-282x2005000200022

    Article  PubMed  Google Scholar 

  23. Ishihara K, Suzuki Y, Shiota J, Kawamura M, Nakano I (2005) An autopsied case of paraneoplastic neurologic syndrome (limbic encephalitis, cerebellar degeneration, and pseudohypertrophy in the inferior olivary nuclei) associated with T cell lymphoma. Rinsho Shinkeigaku 45(8):583–589 Japanese

  24. Patel MS, Becker LE, Toi A, Armstrong DL, Chitayat D (2006) Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5? Am J Med Genet A 140(6):594–603. https://doi.org/10.1002/ajmg.a.31095

    Article  PubMed  Google Scholar 

  25. Gerace C, Fele MR, Luna R, Piazza G (2006) Neurological picture. Bilateral hypertrophic olivary degeneration. J Neurol Neurosurg Psychiatry 77(1):73. https://doi.org/10.1136/jnnp.2005.069831

  26. Mossuto-Agatiello L (2006) Caudal paramedian midbrain syndrome. Neurology 66(11):1668–1671. https://doi.org/10.1212/01.wnl.0000218180.03127.11

    Article  PubMed  Google Scholar 

  27. Johansen KK, Bindoff LA, Rydland J, Aasly JO (2008) Palatal tremor and facial dyskinesia in a patient with POLG1 mutation. Mov Disord 23(11):1624–1626

    Article  Google Scholar 

  28. Niimi Y, Iwasaki Y, Umemura T, Tanaka F, Yoshida M, Hashizume Y et al (2008) MM2-cortical-type sporadic Creutzfeldt-Jakob disease with early stage cerebral cortical pathology presenting with a rapidly progressive clinical course. Neuropathology 28(6):645–651. https://doi.org/10.1111/j.1440-1789.2008.00904.x

    Article  PubMed  Google Scholar 

  29. Saito Y, Iwasaki Y, Aiba I, Kitamoto T, Yoshida M, Hashizume Y (2011) An autopsy case of MM2-cortical + thalamic-type sporadic Creutzfeldt-Jakob disease. Neuropathology 31(5):523–530. https://doi.org/10.1111/j.1440-1789.2010.01181.x

    Article  PubMed  Google Scholar 

  30. Fushimi Y, Miyasaki A, Taki H, Aoyama K, Hirato J, Kanagaki M et al (2011) Rosette-forming glioneuronal tumor of the fourth ventricle with bilateral olivary degeneration. Jpn J Radiol 29(6):445–448. https://doi.org/10.1007/s11604-011-0566-x

    Article  PubMed  Google Scholar 

  31. Nakaso K, Adachi Y, Fusayasu E, Doi K, Imamura K, Yasui K, et al (2012) Leber's hereditary optic neuropathy with olivocerebellar degeneration due to G11778A and T3394C mutations in the mitochondrial DNA. J Clin Neurol 8(3):230–234. https://doi.org/10.3988/jcn.2012.8.3.230

  32. Siebert E, Harms L, Herbst M (2013) Posttraumatic bilateral hypertrophic olivary degeneration. Neurol Sci 34(10):1829–1830. https://doi.org/10.1007/s10072-013-1309-9

    Article  PubMed  Google Scholar 

  33. Otto J, Guenther P, Hoffmann KT (2013) Bilateral hypertrophic olivary degeneration in Wilson disease. Korean J Radiol 14(2):316–320. https://doi.org/10.3348/kjr.2013.14.2.316

    Article  PubMed  PubMed Central  Google Scholar 

  34. Vyas S, Prabhakar A, Kumar A, Khandelwal N (2013) Bilateral hypertrophic olivary degeneration. Ann Indian Acad Neurol 16(3):404–405. https://doi.org/10.4103/0972-2327.116971

    Article  PubMed  PubMed Central  Google Scholar 

  35. Kinghorn KJ, Kaliakatsos M, Blakely EL, Taylor RW, Rich P, Clarke A et al (2013) Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations. J Neurol 260(1):3–9. https://doi.org/10.1007/s00415-012-6564-9

    Article  CAS  PubMed  Google Scholar 

  36. Sonam K, Khan NA, Bindu PS, Taly AB, Gayathri N, Bharath MM et al (2014) Clinical and magnetic resonance imaging findings in patients with Leigh syndrome and SURF1 mutations. Brain Dev 36(9):807–812. https://doi.org/10.1016/j.braindev.2013.10.012

    Article  PubMed  Google Scholar 

  37. Bindu PS, Taly AB, Sonam K, Govindaraju C, Arvinda HR, Gayathri N et al (2014) Bilateral hypertrophic olivary nucleus degeneration on magnetic resonance imaging in children with Leigh and Leigh-like syndrome. Br J Radiol 87(1034):20130478. https://doi.org/10.1259/bjr.20130478

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  38. Menéndez DF, Cury RG, Barbosa ER, Teixeira MJ, Fonoff ET (2014) Hypertrophic olivary degeneration and Holmes’ tremor secondary to bleeding of cavernous malformation in the midbrain. Tremor Other Hyperkinet Mov (N Y) 4:264. https://doi.org/10.7916/D8PG1PXT

    Article  Google Scholar 

  39. Kim MK, Cho BM, Park SH, Yoon DY (2014) Holmes’ tremor associated with bilateral hypertrophic olivary degeneration following brain stem hemorrhage: a case report. J Cerebrovasc Endovasc Neurosurg 16(3):299–302. https://doi.org/10.7461/jcen.2014.16.3.299

    Article  PubMed  PubMed Central  Google Scholar 

  40. Mirabelli-Badenier M, Morana G, Bruno C, Di Rocco M, Striano P, De Grandis E et al (2015) Inferior olivary nucleus involvement in pediatric neurodegenerative disorders: does it play a role in neuroimaging pattern-recognition approach? Neuropediatrics 46(2):104–109. https://doi.org/10.1055/s-0035-1544185

    Article  PubMed  Google Scholar 

  41. Konno T, Broderick DF, Tacik P, Caviness JN, Wszolek ZK (2016) Hypertrophic olivary degeneration: a clinico-radiologic study. Parkinsonism Relat Disord 28:36–40. https://doi.org/10.1016/j.parkreldis.2016.04.008

    Article  PubMed  PubMed Central  Google Scholar 

  42. Fernández J, García-García A, Valle N, Infante J (2016) Oculomandibular tremor and bilateral hypertrophic olivary degeneration. Mov Disord Clin Pract 4(1):152–153. https://doi.org/10.1002/mdc3.12366

    Article  PubMed  PubMed Central  Google Scholar 

  43. Cosentino C, Velez M, Nuñez Y, Palomino H, Quispe D, Flores M et al (2016) Bilateral hypertrophic olivary degeneration and Holmes tremor without palatal tremor: an unusual association. Tremor Other Hyperkinet Mov (N Y) 6:400. https://doi.org/10.7916/D87944SS

    Article  Google Scholar 

  44. Venkatesh M, Chakkalakkoombil SV, Nair PP, Sowkar UB (2017) Idiopathic bilateral hypertrophic olivary degeneration. BMJ Case Rep 2017:bcr2017223115. https://doi.org/10.1136/bcr-2017-223115

  45. Gao AF, Faust-Socher A, Al-Murshed M, Del Bigio MR, Lang AE, Munoz DG (2017) Progressive ataxia and palatal tremor: two autopsy cases of a novel tauopathy. Mov Disord 32(10):1465–1473. https://doi.org/10.1002/mds.27074

    Article  CAS  PubMed  Google Scholar 

  46. Iwasaki Y, Mori K, Ito M, Mimuro M, Kitamoto T, Yoshida M (2017) An autopsied case of MM1 + MM2-cortical with thalamic-type sporadic Creutzfeldt-Jakob disease presenting with hyperintensities on diffusion-weighted MRI before clinical onset. Neuropathology 37(1):78–85. https://doi.org/10.1111/neup.12327

    Article  CAS  PubMed  Google Scholar 

  47. McAuley J, Taylor R, Simonds A, Chawda S (2017) Respiratory difficulty with palatal, laryngeal and respiratory muscle tremor in adult-onset Alexander's disease. BMJ Case Rep 2017:bcr2016218484. https://doi.org/10.1136/bcr-2016-218484.

  48. Naik S, Phadke RV, Agarwal V, Singh V, Bhoi SK (2017) Pontine hemorrhage causing bilateral hypertrophic olivary degeneration. J Neurosci Rural Pract 8(3):498–500. https://doi.org/10.4103/jnrp.jnrp_303_16

    Article  PubMed  PubMed Central  Google Scholar 

  49. Zhou C, He Y, Chao Z, Zhu Y, Wang P, Wang X et al (2017) Wernekink commissure syndrome secondary to bilateral caudal paramedian midbrain infarction presenting with a unique “heart or V” appearance sign: case report and review of the literature. Front Neurol 8:376. https://doi.org/10.3389/fneur.2017.00376

    Article  PubMed  PubMed Central  Google Scholar 

  50. Venkatesh M, Prasad VRS, Basha SU, Priya GHJ (2017) Teaching neuroImages: bilateral hypertrophic olivary degeneration following posterior circulation stroke. Neurology 89(18):e224–e225. https://doi.org/10.1212/WNL.0000000000004605

    Article  PubMed  Google Scholar 

  51. Mullaguri N, Battineni A, Chuquilin M (2018) Wernekink commissure syndrome with palatal myoclonus at onset: a case report and review of the literature. J Med Case Rep 12(1):113. https://doi.org/10.1186/s13256-018-1657-4

    Article  PubMed  PubMed Central  Google Scholar 

  52. Onen MR, Moore K, Cikla U, Ucer M, Schmidt B, Field AS et al (2018) Hypertrophic olivary degeneration: neurosurgical perspective and literature review. World Neurosurg 112:e763–e771. https://doi.org/10.1016/j.wneu.2018.01.150

    Article  PubMed  Google Scholar 

  53. Terecoasa EO (2019) Hypertrophic olivary degeneration after brainstem haemorrrhage - a case report. Ro J Neurol 18(1):45–50. Available at: https://rjn.com.ro/articles/2019.1/RJN_2019_1_Art-08.pdf

  54. Khayat HA, Al-Saadi T, Panet-Raymond V, Diaz RJ (2019) Surgical management of isolated fourth ventricular hydrocephalus associated with injury to the Guillain-Mollaret triangle. World Neurosurg 122:71–76. https://doi.org/10.1016/j.wneu.2018.10.091

    Article  PubMed  Google Scholar 

  55. Behzadi F, Fiester PJ, Rao D (2021) Bilateral hypertrophic olivary degeneration following brainstem insult: a retrospective review and examination of causative pathology. Neurosci Insights 16:26331055211007444. https://doi.org/10.1177/26331055211007445

    Article  PubMed  PubMed Central  Google Scholar 

  56. Schaller-Paule MA, Foerch C, Kluge S, Baumgarten P, Konczalla J, Steinbach JP et al (2019) Delayed occurrence of hypertrophic olivary degeneration after therapy of posterior fossa tumors: a single institution retrospective analysis. J Clin Med 8(12):2222. https://doi.org/10.3390/jcm8122222

    Article  PubMed Central  Google Scholar 

  57. Seliverstov Y, Suslin A, Kremneva E, Krotenkova M (2020) Segmental myorhythmia with palatal tremor due to bilateral hypertrophic olivary degeneration in Wilson disease. Mov Disord Clin Pract 7(7):845–846. https://doi.org/10.1002/mdc3.13017

    Article  PubMed  PubMed Central  Google Scholar 

  58. Granger A, Agarwal S, Andino A, Kwon P, Zakin E (2020) Hypertrophic olivary degeneration and movement disorder in a patient with familial Creutzfeldt-Jakob disease. Cureus 12(10):e10854. https://doi.org/10.7759/cureus.10854

    Article  PubMed  PubMed Central  Google Scholar 

  59. Memmedova F, Şişman Ç, Yazıcı EL, Emre U, Karagöz Y (2021) Bilateral hypertrophıc olivary degeneration: case report. Neurol Sci 42(4):1573–1575. https://doi.org/10.1007/s10072-020-04741-7

    Article  PubMed  Google Scholar 

  60. Daneshmand A, Borhani-Haghighi A, Monabati A, Karimi M, Ostovan VR (2022) Bilateral hypertrophic olivary degeneration as a paraneoplastic syndrome of a poorly differentiated carcinoma of the upper gastrointestinal tract: a case report and literature review. Neurologist. https://doi.org/10.1097/NRL.0000000000000414

    Article  PubMed  Google Scholar 

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Funding

J. Benito-León is supported by the National Institutes of Health, Bethesda, MD, USA (NINDS #R01 NS39422), the European Commission (grant ICT-2011–287739, NeuroTREMOR), the Ministry of Economy and Competitiveness (grant RTC-2015–3967-1, NetMD—platform for the tracking of movement disorder), and the Spanish Health Research Agency (grant FIS PI12/01602 and grant FIS PI16/00451).

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Authors and Affiliations

  1. Department of General Medicine, Burdwan Medical College, and Hospital, Burdwan, West Bengal, India

    Ritwik Ghosh

  2. Section of Clinical Neurophysiology, Department of Neurology, University Hospital “La Paz”, Madrid, Spain

    Moisés León-Ruiz

  3. Department of Neuromedicine, Bangur Institute of Neurosciences, Institute of Post Graduate Medical Education and Research & SSKM Hospital, Kolkata, West Bengal, India

    Souvik Dubey

  4. Department of Neurology, University Hospital “12 de Octubre”, Madrid, Spain

    Julián Benito-León

  5. Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain

    Julián Benito-León

  6. Department of Medicine, Complutense University, Madrid, Spain

    Julián Benito-León

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  1. Ritwik Ghosh
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All authors contributed significantly to the creation of this manuscript; each fulfilled criterion as established by the ICMJE.

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Correspondence to Julián Benito-León.

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Ghosh, R., León-Ruiz, M., Dubey, S. et al. The first case report of spinocerebellar ataxia type-40 in India: novel phenotypic and radiological (bilateral olivary degeneration) features and a comprehensive review of this remarkable radiological sign. Neurol Sci 43, 5111–5117 (2022). https://doi.org/10.1007/s10072-022-06095-8

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