Objective: Analyze a clinical case detailing the presentation of a patient primarily exhibiting gradual onset balance disturbances, subsequently diagnosed with HSP-7, elucidating key diagnostic challenges and management considerations.

Background: Over 80 genetic types of HSP have been identified, categorized based on inheritance patterns including autosomal dominant, autosomal recessive, X-linked, and maternally inherited forms. Autosomal dominant HSP are most common, comprising 75%-80% of cases, primarily due to mutations in the SPAST (SPG4) and ATL1 (SPG3A) genes. Autosomal recessive HSP, including the SPG7 variant relevant to our case, is less common but significant, particularly in consanguineous populations. Key autosomal recessive subtypes include SPG5A & SPG7, with SPG7 mutations representing about 5% of cases.¹ This genetic diversity highlights the need for repeated genetic testing to accurately diagnose HSP, especially considering the continual development of new genetic panels.

Method: Case report

Results: A 62-year-old male initially presented with imbalance issues in 1994, progressing to falls and necessitating the use of a cane by 2008. Despite extensive investigations, including ataxia labs and genetic testing in 2010, a specific diagnosis remained elusive. Symptoms persisted & gradually worsened over the years, leading to wheelchair dependence for long distances by 2014, and started to experience speech and swallowing difficulties. Following a rapid decline in May-June 2019, marked by fatigue, nausea, vertigo, and headaches after a dental procedure, his condition eventually stabilized. In 2020, he had worsening headache, cognitive decline, and balance issues despite physical therapy, with increased falls.

On exam, he had scanning speech, fine bilateral tremor, dysmetria more on left, brisk lower extremities DTR, bilateral lower extremities spasticity, wide-based ataxic gait with steppage quality, and truncal ataxia. MRI showed disproportionate bi-hemispheric cerebellar atrophy. In 2022, he underwent repeat genetic testing which showed a missense mutation of the compound heterozygote pathogenic variant of the SPG-7 gene (c.1529C>T, p.Ala510Val; c.1947G>A, p.Asp650Asn). Currently managed with Baclofen and PT.

Conclusion: This case underscores the importance of periodic repeat genetic testing in undiagnosed ataxia, particularly as new genetic panels continue to evolve.

References: 1. https://www.ncbi.nlm.nih.gov/books/NBK1509/ Hereditary Spastic Paraplegia Overview

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MDS Abstracts - https://www.mdsabstracts.org/abstract/progressive-cerebellar-ataxia-as-the-predominant-symptomatology-of-sgp-7-compound-heterozygote-pathogenic-variants-related-hsp-7/