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Case Report
Spinocerebellar ataxia type 7: A case report
1 Medical student of the Iguaçu University, Nova Iguaçu, Rio de Janeiro, Brazil
2 Physician, Neurologist, Adjunct Professor of Medicine at Universidade Iguaçu, Nova Iguaçu, Rio de Janeiro, Brazil
3 Department of Neurology of Hospital Geral de Nova Iguaçu, Adjunct Professor of Medicine at Iguaçu University-UNIG/Nova Iguaçu, RJ, Brazil
Address correspondence to:
Antônio Marcos da Silva Catarino
Rua Galvão Peixoto 70, Room 811, CEP 24 2230-100, Icaraí, Niterói-RJ,
Brazil
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Article ID: 101470Z01RL2024
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How to cite this article
Leitão RM, Orsini M, do Nascimento Mateus MP, Falconi R, da Silva Catarino AM, Martins Jr GC. Spinocerebellar ataxia type 7: A case report. Int J Case Rep Images 2024;15(2):53–57.ABSTRACT
Introduction: Spinocerebellar ataxia type 7 is part of a rare group of neurodegenerative diseases, characterized by lesions in the brainstem, cerebellum, spinal cord, and retina, manifesting as motor disturbances associated with signs of pyramidal involvement and amaurosis. The dysfunction is caused by autosomal dominant genetic alterations, with disease severity and the age of symptom onset being directly linked to the patient’s genetic expression.
Case Report: We present the case of a 24-year-old woman, previously healthy, who denied smoking, drinking alcohol, or taking any other drugs. She reported that approximately nine months, she had experienced a decline in dexterity for tasks requiring fine motor skills. She also exhibited impaired gait, frequent falls, and difficulties in performing basic activities of daily living (ADLs). On neurological examination, she presented with an ataxic and staggering gait, tremor during movement, dysmetria, dysdiadochokinesia, movement decomposition, dysarthria (scanning speech), dysphagia, dystasia, dysbasia, and nystagmus, all of which are indicative of cerebellar impairment. A genetic panel revealed the presence of 44 cytosine-adenine-guanine nucleotide repeat expansions on allele 2 of the ATXN7 gene, confirming the diagnosis of spinocerebellar ataxia type 7.
Conclusion: In this case report, the diagnosis of spinocerebellar ataxia was established through a comprehensive assessment of the patient’s clinical history, neurological examination, imaging studies, and genetic profiling, all of which are essential for reaching a definitive diagnosis. The prognosis for this disease varies due to ongoing research into its pathophysiology. Furthermore, discussions within the scientific community regarding potential cures for this condition continue.
Keywords: Ataxias, Cerebellar degeneration, Spinocerebellar ataxia type 7
SUPPORTING INFORMATION
Author Contributions
Roberto Monteiro Leitão - Conception of the work, Design of the work, Analysis of data, Drafting the work, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Marco Orsini - Conception of the work, Design of the work, Analysis of data, Drafting the work, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Mariana Pontes do Nascimento Mateus - Conception of the work, Design of the work, Analysis of data, Drafting the work, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Renan Falconi - Conception of the work, Design of the work, Acquisition of data, Analysis of data, Drafting the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Antônio Marcos da Silva Catarino - Conception of the work, Design of the work, Acquisition of data, Analysis of data, Drafting the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Gilberto Canedo Martins Jr - Conception of the work, Design of the work, Drafting the work, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Guarantor of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2024 Roberto Monteiro Leitão et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
