Severe 5,10-methylenetetrahydrofolate reductase deficiency: A rare, treatable cause of complicated hereditary spastic paraplegia

Enzo Ricci, Gabriella Silvestri, Alessia Perna, Marcella Masciullo, Anna Modoni, M. Masciullo, E. Cellini, E. Parrini, A. M. Donati

Risultato della ricerca: Contributo in rivistaArticolo in rivista

5 Citazioni (Scopus)

Abstract

Background and purpose: Juvenile- or adult-onset forms of severe 5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency manifesting as complicated hereditary spastic paraplegia have rarely been described. Methods: Two siblings with mental retardation developed a progressive spastic paraparesis in their late teens. Their diagnostic assessment included extensive neurophysiologic, neuroimaging and metabolic studies. Results: Brain magnetic resonance imaging showed occipital white matter alterations, and electromyography documented a mixed polyneuropathy. Severe hyperhomocisteinemia (>150 μmol/L) associated with the characteristic amino acid profile suggested a diagnosis of severe MTHFR deficiency, confirmed by MTHFR direct sequencing. Treatment with betaine and vitamins benefitted patients' symptoms and diagnostic features. Conclusions: Severe MTHFR deficiency can be a rare, treatable cause of autosomal recessive complicated hereditary spastic paraplegia. Its screening should be part of the diagnostic flowchart for these disorders.
Lingua originaleEnglish
pagine (da-a)602-605
Numero di pagine4
RivistaEUROPEAN JOURNAL OF NEUROLOGY
Volume25
DOI
Stato di pubblicazionePubblicato - 2018

Keywords

  • Betain
  • Cerebral white matter disease
  • Complicated hereditary spastic paraplegia
  • Hyperhomocysteinemia
  • Neurology
  • Neurology (clinical)
  • Severe 5,10-methylenetetrahydrofolate reductase deficiency

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