SPG3A & MS found in 9 cases

Positive response to immunotherapy for most

This study provides strong evidence that in nine cases, people were found to have both SPG3A and Multiple Sclerosis (MS). Seven of the nine cases responded to standard MS therapy targeting the immune system.

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.

SOURCE:  Neurol Sci. 2022 Sep;43(9):5501-5511. doi: 10.1007/s10072-022-06145-1. Epub 2022 May 21. PMID: 35595875 © 2022. Fondazione Società Italiana di Neurologia.

Multiple sclerosis in patients with hereditary spastic paraplegia: a case report and systematic review

Maria Pia Giannoccaro #  1   2 Eleonora Matteo #  2 Fiorina Bartiromo  1   2 Caterina Tonon  1   2 Filippo M Santorelli  3 Rocco Liguori  1   2 Giovanni Rizzo  4

1. IRCCS Istituto delle Scienze Neurologiche di Bologna, Bellaria Hospital, 40139, Bologna, Italy.

2. Dipartimento di Scienze Biomediche e Neuromotorie, Alma Mater Studiorum, University of Bologna, Bologna, Italy.

3. IRCCS Stella Maris Foundation, Molecular Medicine Unit, Pisa, Italy.

4. IRCCS Istituto delle Scienze Neurologiche di Bologna, Bellaria Hospital, 40139, Bologna, Italy.

#. Contributed equally.

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