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Machado Joseph's Disease in a Togolese Family: A Case Report

Received: 30 October 2021     Accepted: 14 December 2021     Published: 29 December 2021
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Abstract

Spinocerebellar ataxias (SCAs) are rare neurodegenerative disorders of adults characterized by autosomal dominant inheritance. Machado-Joseph disease (MJD) or ASC type 3 is the most common worldwide. We report the first cases of MJD in a Togolese family. We performed a cross-sectional study based on a case of MMJ disease confirmed by genetic testing. We then conducted a family survey to identify suspected familial cases of the disease. The confirmed case was a 46 year old Togolese woman of Ewe ethnicity (south of Togo), hypertensive, who was seen in consultation for speech and walking disorders that had been progressively worsening for 9 years and had been confined to a wheelchair for 3 years. In the family history, we noted similar cases without a precise diagnosis. On examination, we noted cerebellar dysarthria, difficulties in performing calculations, spastic tetraparesis at 4/5, kinetic and static ataxia. Brain magnetic resonance imaging showed cerebral atrophy more marked in the posterior fossa. Genetic analysis revealed the presence of an expanded allele located in the pathological zone at the ASC3 locus, which confirmed the diagnosis. The family investigation allowed us to identify six suspected cases on clinical grounds. This observation confirms the ubiquitous nature of MJD. The existence of a family history of gait disorders in a patient with cerebellar ataxia should raise the possibility of ASC.

Published in American Journal of Psychiatry and Neuroscience (Volume 9, Issue 4)
DOI 10.11648/j.ajpn.20210904.17
Page(s) 181-184
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2021. Published by Science Publishing Group

Keywords

Spinocerebellar Atrophy, Machado Joseph, Togo, Case Report

References
[1] Bird TD. Overview of hereditary ataxia. 1998 Oct 28 [updated 2019 Jul 25]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. Gene Reviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. PMID: 20301317.
[2] Takiyama Y, Nishizawa M, Tanaka H, Kawashima S, Sakamoto H, Karube Y, Shimazaki H, Soutome M, Endo K, Ohta S, et al. The gene for Machado-Joseph disease maps to human chromosome 14q. Nat Genet. 1993; 4 (3): 300-4. doi: 10.1038/ng0793-300. PMID: 8358439.
[3] Kieling C, Prestes PR, Saraiva-Pereira ML, Jardim LB. Survival estimates for patients with Machado-Joseph disease (SCA3). Clin Genet. 2007; 72 (6): 543-5. doi: 10.1111/j.1399-0004.2007.00910.x. Epub 2007 Sep 25. PMID: 17894834.
[4] Sequeiros J, Coutinho P. Epidemiology and clinical aspects of Machado-Joseph disease. Adv Neurol. 1993; 61: 139-53. PMID: 8421964.
[5] van de Warrenburg BP, Sinke RJ, Verschuuren-Bemelmans CC, Scheffer H, Brunt ER, Ippel PF, Maat-Kievit JA, Dooijes D, Notermans NC, Lindhout D, et al: Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. Neurology 2002, 58 (5): 702-708.
[6] Schols L, Bauer P, Schmidt T, Schulte T, Riess O: Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 2004, 3 (5): 291-304.
[7] Teive HA, Munhoz RP, Raskin S, Werneck LC: Spinocerebellar ataxia type 6 in Brazil. Arq Neuropsiquiatr 2008, 66 (3B): 691-694.
[8] Jardim LB, Silveira I, Pereira ML, Ferro A, Alonso I, do Ceu Moreira M, Mendonca P, Ferreirinha F, Sequeiros J, Giugliani R: A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations. J Neurol 2001, 248 (10): 870-876.
[9] Vale J, Bugalho P, Silveira I, Sequeiros J, Guimaraes J, Coutinho P: Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal. Eur J Neurol 2010, 17 (1): 124-8.
[10] Silveira I, Coutinho P, Maciel P, Gaspar C, Hayes S, Dias A, Guimaraes J, Loureiro L, Sequeiros J, Rouleau GA: Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families. Am J Med Genet 1998, 81 (2): 134-138.
[11] Zhao Y, Tan EK, Law HY, Yoon CS, Wong MC, Ng I: Prevalence and ethnic differences of autosomal-dominant cerebellar ataxia in Singapore. Clin Genet 2002, 62 (6): 478-481.
[12] Tang B, Liu C, Shen L, Dai H, Pan Q, Jing L, Ouyang S, Xia J: Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds. Arch Neurol 2000, 57 (4): 540-544.
[13] Jiang H, Tang BS, Xu B, Zhao GH, Shen L, Tang JG, Li QH, Xia K: Frequency analysis of autosomal dominant spinocerebellar ataxias in mainland Chinese patients and clinical and molecular characterization of spinocerebellar ataxia type 6. Chin Med J (Engl) 2005, 18 (10): 837-843.
[14] Schols L, Amoiridis G, Buttner T, Przuntek H, Epplen JT, Riess O: Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? Ann Neurol 1997, 42 (6): 924-932.
[15] Maruyama H, Izumi Y, Morino H, Oda M, Toji H, Nakamura S, Kawakami H: Difference in disease-free survival curve and regional distribution according to subtype of pinocerebellar ataxia: a study of 1,286 Japanese patients. Am J Med Genet 2002, 114 (5): 578-583.
[16] Shibata-Hamaguchi A, Ishida C, Iwasa K, Yamada M: Prevalence of spinocerebellar degenerations in the Hokuriku district in Japan. Neuroepidemiology 2009, 32 (3): 176-183.
[17] Kraft S, Furtado S, Ranawaya R, Parboosingh J, Bleoo S, McElligott K, Bridge P, Spacey S, Das S, Suchowersky O: Adult onset spinocerebellar ataxia in a Canadian movement disorders clinic. Can J Neurol Sci 2005, 32 (4): 450-458.
[18] Moseley ML, Benzow KA, Schut LJ, Bird TD, Gomez CM, Barkhaus PE, Blindauer KA, Labuda M, Pandolfo M, Koob MD, et al: Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families. Neurology 1998, 51 (6): 1666-1671.
[19] Alonso E, Martinez-Ruano L, De Biase I, Mader C, Ochoa A, Yescas P, Gutierrez R, White M, Ruano L, Fragoso-Benitez M, et al: Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population. Mov Disord 2007, 22 (7): 1050-1053.
[20] Storey E, du Sart D, Shaw JH, Lorentzos P, Kelly L, McKinley Gardner RJ, Forrest SM, Biros I, Nicholson GA: Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia. Am J Med Genet 2000, 95 (4): 351-357.
[21] Saleem Q, Choudhry S, Mukerji M, Bashyam L, Padma MV, Chakravarthy A, Maheshwari MC, Jain S, Brahmachari SK: Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation. Hum Genet 2000, 106 (2): 179-187.
[22] Krishna N, Mohan S, Yashavantha BS, Rammurthy A, Kiran Kumar HB, Mittal U, Tyagi S, Mukerji M, Jain S, Pal PK, et al: SCA1, SCA2 & SCA3/ MJD mutations in ataxia syndromes in southern India. Indian J Med Res 2007, 126 (5): 465-470.
[23] Almaguer-Mederos LE, Sarr L, Abascal JV, Aguilera-Rodríquez R, Martín MA, Khalil MI, Al-Jafari MA, de Jorge López L, Volpini V, Nyan O. Spinocerebellar ataxia type 2 in The Gambia: A case report. J Neurol Sci. 2015; 349 (1-2): 269-71. doi: 10.1016/j.jns.2015.01.027. Epub 2015 Jan 28. PMID: 25649479.
[24] Ogun SA, Martins S, Adebayo PB, Dawodu CO, Sequeiros J, Finkel MF. Machado-Joseph disease in a Nigerian family: mutational origin and review of the literature. Eur J Hum Genet. 2015; 23 (2): 271-3. doi: 10.1038/ejhg.2014.77. Epub 2014 Apr 30. PMID: 24781759; PMCID: PMC4297905.
[25] Ramesar RS, Bardien S, Beighton P, Bryer A. Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in South African families. Hum Genet. 1997; 100 (1): 131-7. doi: 10.1007/s004390050478. PMID: 9225982.
[26] Mendonça N, França MC Jr, Gonçalves AF, Januário C. Clinical features of Machado-Joseph disease. Adv Exp Med Biol. 2018; 1049: 255-273. doi: 10.1007/978-3-319-71779-1_13. PMID: 29427108.
[27] Mendes Á, Paneque M, Clarke A, Sequeiros J. Choosing not to know: accounts of non-engagement with pre-symptomatic testing for Machado-Joseph disease. Eur J Hum Genet. 2019; 27 (3): 353-359. doi: 10.1038/s41431-018-0308-y. Epub 2018 Dec 20. PMID: 30573801; PMCID: PMC6460576.
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  • APA Style

    Vinyo Kodzo Kumako, Kokouvi Panabalo Waklatsi, Kossivi Apetse, Komi Igneza Agbotsou, Komi Assogba, et al. (2021). Machado Joseph's Disease in a Togolese Family: A Case Report. American Journal of Psychiatry and Neuroscience, 9(4), 181-184. https://doi.org/10.11648/j.ajpn.20210904.17

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    ACS Style

    Vinyo Kodzo Kumako; Kokouvi Panabalo Waklatsi; Kossivi Apetse; Komi Igneza Agbotsou; Komi Assogba, et al. Machado Joseph's Disease in a Togolese Family: A Case Report. Am. J. Psychiatry Neurosci. 2021, 9(4), 181-184. doi: 10.11648/j.ajpn.20210904.17

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    AMA Style

    Vinyo Kodzo Kumako, Kokouvi Panabalo Waklatsi, Kossivi Apetse, Komi Igneza Agbotsou, Komi Assogba, et al. Machado Joseph's Disease in a Togolese Family: A Case Report. Am J Psychiatry Neurosci. 2021;9(4):181-184. doi: 10.11648/j.ajpn.20210904.17

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  • @article{10.11648/j.ajpn.20210904.17,
      author = {Vinyo Kodzo Kumako and Kokouvi Panabalo Waklatsi and Kossivi Apetse and Komi Igneza Agbotsou and Komi Assogba and Agnon Ayelola Koffi Balogou},
      title = {Machado Joseph's Disease in a Togolese Family: A Case Report},
      journal = {American Journal of Psychiatry and Neuroscience},
      volume = {9},
      number = {4},
      pages = {181-184},
      doi = {10.11648/j.ajpn.20210904.17},
      url = {https://doi.org/10.11648/j.ajpn.20210904.17},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajpn.20210904.17},
      abstract = {Spinocerebellar ataxias (SCAs) are rare neurodegenerative disorders of adults characterized by autosomal dominant inheritance. Machado-Joseph disease (MJD) or ASC type 3 is the most common worldwide. We report the first cases of MJD in a Togolese family. We performed a cross-sectional study based on a case of MMJ disease confirmed by genetic testing. We then conducted a family survey to identify suspected familial cases of the disease. The confirmed case was a 46 year old Togolese woman of Ewe ethnicity (south of Togo), hypertensive, who was seen in consultation for speech and walking disorders that had been progressively worsening for 9 years and had been confined to a wheelchair for 3 years. In the family history, we noted similar cases without a precise diagnosis. On examination, we noted cerebellar dysarthria, difficulties in performing calculations, spastic tetraparesis at 4/5, kinetic and static ataxia. Brain magnetic resonance imaging showed cerebral atrophy more marked in the posterior fossa. Genetic analysis revealed the presence of an expanded allele located in the pathological zone at the ASC3 locus, which confirmed the diagnosis. The family investigation allowed us to identify six suspected cases on clinical grounds. This observation confirms the ubiquitous nature of MJD. The existence of a family history of gait disorders in a patient with cerebellar ataxia should raise the possibility of ASC.},
     year = {2021}
    }
    

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  • TY  - JOUR
    T1  - Machado Joseph's Disease in a Togolese Family: A Case Report
    AU  - Vinyo Kodzo Kumako
    AU  - Kokouvi Panabalo Waklatsi
    AU  - Kossivi Apetse
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    JF  - American Journal of Psychiatry and Neuroscience
    JO  - American Journal of Psychiatry and Neuroscience
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    PB  - Science Publishing Group
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    UR  - https://doi.org/10.11648/j.ajpn.20210904.17
    AB  - Spinocerebellar ataxias (SCAs) are rare neurodegenerative disorders of adults characterized by autosomal dominant inheritance. Machado-Joseph disease (MJD) or ASC type 3 is the most common worldwide. We report the first cases of MJD in a Togolese family. We performed a cross-sectional study based on a case of MMJ disease confirmed by genetic testing. We then conducted a family survey to identify suspected familial cases of the disease. The confirmed case was a 46 year old Togolese woman of Ewe ethnicity (south of Togo), hypertensive, who was seen in consultation for speech and walking disorders that had been progressively worsening for 9 years and had been confined to a wheelchair for 3 years. In the family history, we noted similar cases without a precise diagnosis. On examination, we noted cerebellar dysarthria, difficulties in performing calculations, spastic tetraparesis at 4/5, kinetic and static ataxia. Brain magnetic resonance imaging showed cerebral atrophy more marked in the posterior fossa. Genetic analysis revealed the presence of an expanded allele located in the pathological zone at the ASC3 locus, which confirmed the diagnosis. The family investigation allowed us to identify six suspected cases on clinical grounds. This observation confirms the ubiquitous nature of MJD. The existence of a family history of gait disorders in a patient with cerebellar ataxia should raise the possibility of ASC.
    VL  - 9
    IS  - 4
    ER  - 

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Author Information
  • Faculty of Health Sciences, University of Kara, Kara Togo

  • Neurology Department, Campus Teaching Hospital of Lome, Lome, Togo

  • Neurology Department, Campus Teaching Hospital of Lome, Lome, Togo

  • Neurology Department, Campus Teaching Hospital of Lome, Lome, Togo

  • Neurology Department, Campus Teaching Hospital of Lome, Lome, Togo

  • Neurology Department, Campus Teaching Hospital of Lome, Lome, Togo

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