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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 - Substantial contributions to conception and design, Analysis of data, Drafting the article, Final approval of the version to be published
Marco Orsini - Substantial contributions to conception and design, Analysis of data, Drafting the article, Final approval of the version to be published
Mariana Pontes do Nascimento Mateus - Substantial contributions to conception and design, Analysis of data, Drafting the article, Final approval of the version to be published
Renan Falconi - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Antônio Marcos da Silva Catarino - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Gilberto Canedo Martins Jr - Substantial contributions to conception and design, Interpretation of data, Drafting the article, Final approval of the version to be published
Guaranter 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.
