A new paraplegin mutation in a patient with primary progressive multiple sclerosis: Multiple Sclerosis and Related Disorders

A. Bellinvia, L. Pastò, C. Niccolai, A. Tessa, R. Carrai, C. Martinelli, M. Moretti, M.P. Amato, F.M. Santorelli, S. Sorbi, S. Matà

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Primary progressive multiple sclerosis (PPMS) presents with clinical signs of slowly progressive long tract dysfunction that can overlap with neurodegenerative disorders, such as hereditary spastic paraplegia (HSP). Herein, we present two siblings in whom we have identified a novel mutation in the paraplegin (SPG7) gene. The proband, a 49-year-old woman, presented with a five-year history of progressive spastic paraparesis and ataxia. Brain MRI showed mild cerebellar atrophy. The genetic study revealed a homozygous mutation in the SPG7 gene, that led to the diagnosis of HSP. Four years previously, the younger brother had complained of slowly progressive spastic-ataxic gait, that started one year before; MRI had disclosed multiple areas of white matter hyperintensity with contrast enhancement. A diagnosis of active PPMS was made, and the patient started Disease-Modifying Therapy with further clinical and radiological stability. Once a genetic diagnosis was achieved in his sister, the patient underwent SPG7 testing, which disclosed the same mutation. Whether MS is a mimicry of HSP or it represents "double trouble" condition in this patient, it remains undetermined. © 2020 Elsevier B.V.
Original languageEnglish
JournalMult. Scler. Relat. Disord.
Publication statusPublished - 2020


  • Hereditary spastic paraparesis
  • Multiple sclerosis
  • SPG7
  • White matter changes
  • colestyramine
  • fumaric acid dimethyl ester
  • gadolinium
  • interferon beta serine
  • methylprednisolone
  • paraplegin protein
  • proteinase
  • teriflunomide
  • unclassified drug
  • adult
  • anamnesis
  • Article
  • ataxia
  • brain radiography
  • brother
  • case report
  • cerebellum atrophy
  • cerebrospinal fluid examination
  • clinical article
  • clinical feature
  • contrast enhancement
  • disease duration
  • disease severity
  • drug megadose
  • drug substitution
  • drug withdrawal
  • Expanded Disability Status Scale
  • female
  • gait disorder
  • gene mutation
  • genetic screening
  • homozygote
  • human
  • middle aged
  • molecular diagnosis
  • multiple sclerosis
  • mutational analysis
  • neurologic examination
  • nuclear magnetic resonance imaging
  • paraplegin gene
  • paresthesia
  • sibling
  • spastic paraplegia
  • white matter lesion

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