Subclinical involvement of central nervous system structures other than motor or sensory tracts in SPG3A and SPG4 patients

BMC Neurol. 2026 Jan 9;26(1):74. doi: 10.1186/s12883-025-04624-4.

Abstract

OBJECTIVE: Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group of rare, neurodegenerative disorders. The most prominent HSP features: spastic paraparesis, mild somatosensory deficits and bladder dysfunction may be accompanied by additional symptoms i.e.: neuropathy, epilepsy, dementia. We aimed to determine subclinical involvement of nonmotor or sensory brain structures in hereditary spastic paraplegias type 3 A (SPG3A) and type 4 (SPG4). METHODS: Visual evoked potentials (VEPs), brainstem evoked potentials (BAEPs) and electroencephalography (EEG) were performed in 28 SPG4 and 9 SPG3A patients. Disease severity was evaluated with Spastic Paraplegia Rating Scale. RESULTS: The EEG examination revealed abnormalities in 9 SPG4 patients (35%), while it was intact in SPG3A individuals. VEPs indicated mild abnormalities in 38% SPG3A patients: 127.3±7.8ms and 48% SPG4: 122.2±6.4ms. SPG4 patients with DNA microrearrangements in the SPAST gene had statistically significantly longer VEPs latencies (95%CI, 2.78–10.10) and lower amplitudes (95%CI, -5.65 – (-1.45)) than those with single nucleotide variants. BAEPs were distracted accidentally. CONCLUSIONS: It appears that visual tracts, which involve shorter axons than in motor-sensory pathways, are also involved in neurodegenerative processes in SPG3A and SPG4. Additionally, in SPG4 abnormal oscillations of neurons indicated by EEG may probably result from impaired axonal transport.

Keywords: Brainstem auditory evoked potentials; Electroencephalography; Hereditary spastic paraplegia type 3A; Hereditary spastic paraplegia type 4; Visual evoked potentials.

MeSH terms

  • Adenosine Triphosphatases / genetics
  • Adult
  • Electroencephalography
  • Evoked Potentials, Visual / physiology
  • Female
  • Humans
  • Male
  • Middle Aged
  • Paraplegia
  • Spastic Paraplegia, Hereditary* / genetics
  • Spastic Paraplegia, Hereditary* / physiopathology
  • Spastin / genetics
  • Young Adult

Substances

  • Spastin
  • SPAST protein, human
  • Adenosine Triphosphatases

Supplementary concepts

  • Spastic Paraplegia Type 4