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 |
Spinocerebellar Atrophy, Machado Joseph, Togo, Case Report
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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
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
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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Download@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}
}
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 AU - Komi Igneza Agbotsou AU - Komi Assogba AU - Agnon Ayelola Koffi Balogou Y1 - 2021/12/29 PY - 2021 N1 - https://doi.org/10.11648/j.ajpn.20210904.17 DO - 10.11648/j.ajpn.20210904.17 T2 - American Journal of Psychiatry and Neuroscience JF - American Journal of Psychiatry and Neuroscience JO - American Journal of Psychiatry and Neuroscience SP - 181 EP - 184 PB - Science Publishing Group SN - 2330-426X 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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