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 originale | English |
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pagine (da-a) | 602-605 |
Numero di pagine | 4 |
Rivista | European Journal of Neurology |
Volume | 25 |
DOI | |
Stato di pubblicazione | Pubblicato - 2018 |
Keywords
- Betain
- Cerebral white matter disease
- Complicated hereditary spastic paraplegia
- Hyperhomocysteinemia
- Neurology
- Neurology (clinical)
- Severe 5,10-methylenetetrahydrofolate reductase deficiency