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Multiple sclerosis in patients with hereditary spastic paraplegia: a case report and systematic review
Maria Pia Giannoccaro1,2, Eleonora Matteo2, Fiorina Bartiromo1,2
1IRCCS Istituto delle Scienze Neurologiche di Bologna, Bellaria Hospital, 40139, Bologna, Italy.
Introduction:
An increasing number of cases of comorbid hereditary spastic paraplegia (HSP) and multiple sclerosis (MS) have been described. We report a patient with the SPG3A form of HSP and features of relapsing-remitting MS (RRMS). We took this opportunity to review the current literature of co-occurring MS and HSP.
Method:
The patient underwent clinical, laboratory and neuroimaging evaluations. We performed a literature search for cases of HSP and MS. The 2017 McDonalds Criteria for MS were retrospectively applied to the selected cases.
Results:
A 34-year-old woman, presenting a molecular diagnosis of SPG3A, complained subacute sensory-motor symptoms. Spinal MRI disclosed T2-hyperintense lesions at C2, T6 and T4 level, the latter presenting contrast-enhancement. CSF analysis showed oligoclonal bands. She was treated with intravenous high-dose steroids, with symptom resolution. The literature review yielded 13 papers reporting 20 possible cases of MS and HSP. Nine patients (5 M, median age 34) met the 2017 McDonald criteria. Five (25%) received a diagnosis of RRMS and four (20%) of primary progressive MS. Brain MRI showed multiple WM lesions, mostly periventricular. Six of seven cases (85.7%) had spinal cord involvement. Oligoclonal bands were found in 6/8 (75%) patients. Seven patients (77.7%) improved/stabilized on immunotherapy.
Conclusion:
This is the first description on the association between SPG3A type of HSP and MS. This report adds to the other reported cases of co-occurring HSPs and MS. Although it remains unclear if this association is casual or causal, clinicians should be aware that an HSP diagnosis does not always exclude a concomitant MS.
Insights
Hereditary spastic paraplegia (HSP) and multiple sclerosis (MS) can co-occur. This case report details a patient with SPG3A-HSP and MS, highlighting the need for clinical awareness of this association.
Area of Science:
- Neurology
- Neuroimmunology
Background:
- An increasing number of hereditary spastic paraplegia (HSP) and multiple sclerosis (MS) comorbidity cases are being reported.
- This study focuses on a patient diagnosed with SPG3A-HSP and relapsing-remitting MS (RRMS).
Observation:
- A 34-year-old woman with SPG3A-HSP presented with subacute sensory-motor symptoms.
- Neuroimaging revealed T2-hyperintense lesions in the spinal cord, and cerebrospinal fluid analysis detected oligoclonal bands.
- The patient responded to high-dose intravenous steroids.
Findings:
- Literature review identified 20 potential cases of co-occurring MS and HSP, with nine meeting the 2017 McDonald criteria.
- Diagnoses included relapsing-remitting MS and primary progressive MS.
- Immunotherapy led to improvement or stabilization in most patients.
Implications:
- This is the first report of SPG3A-HSP associated with MS.
- The findings suggest clinicians should consider MS in patients diagnosed with HSP.
- Further research is needed to determine if the association between HSP and MS is casual or causal.
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