Frequently observed polyneuropathy expands phenotypic spectrum of apparently pure autosomal dominant hereditary spastic paraplegias
The primarily pure form of HSP is present in patients with SPG4, SPG3 and SPG31. Nevertheless, the presence of additional symptoms provides evidence that in AD-HSP not only the cortico-spinal tract is involved. The most common additional symptom is polyneuropathy. We suggest that all patients with a genetic diagnosis of SPG4 and SPG3 should have electrophysiological testing performed, and then periodically repeated, for the purpose of controlling the involvement of peripheral nerves. We found a considerable variability, including in terms of age at onset and the progression rate of disability, mainly in SPG4.
Authors
- Ewelina Elert‐Dobkowska (ORCID: https://orcid.org/0000-0002-8106-2259)
- Wioletta Krysa
- Anna Sułek (ORCID: https://orcid.org/0000-0003-2975-4888)
- Marta Rajkiewicz
- Iwona Stępniak (ORCID: https://orcid.org/0000-0001-9793-2901)
- Monika Rudzińska (ORCID: https://orcid.org/0000-0002-1453-6856)
- Anna Sobańska (ORCID: https://orcid.org/0000-0002-7129-913X)
- Grzegorz Makowicz (ORCID: https://orcid.org/0000-0002-8765-8985)
- Jacek Pilch (ORCID: https://orcid.org/0000-0001-6792-0985)
- Jacek Zaremba (ORCID: https://orcid.org/0000-0002-9546-7767)
- Maria Rakowicz (ORCID: https://orcid.org/0000-0003-3998-8936)
- Wanda Lipczyńska-Łojkowska
- Anna Wasielewska-Hobot
Institutions
- Medical University of Silesia (PL)
- Uczelnia Łazarskiego (PL)
- Andrzej Frycz Modrzewski Krakow University (PL)
- Krakow Cardiovascular Research Institute (PL)
- Institute of Psychiatry and Neurology (PL)
- Grochowski Hospital (PL)
Publication Details
- Journal
- Neurologia i Neurochirurgia Polska
- Published
- 2025-05-23
- DOI
- https://doi.org/10.5603/pjnns.101154
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00