Abstract
| Original language | English |
|---|---|
| Pages (from-to) | 602-605 |
| Number of pages | 4 |
| Journal | European Journal of Neurology |
| Volume | 25 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - Mar 1 2018 |
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Severe 5,10-methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia. / Perna, A.; Masciullo, M.; Modoni, A.; Cellini, E.; Parrini, E.; Ricci, E.; Donati, A. M.; Silvestri, G.
In: European Journal of Neurology, Vol. 25, No. 3, 01.03.2018, p. 602-605.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Severe 5,10-methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia
AU - Perna, A.
AU - Masciullo, M.
AU - Modoni, A.
AU - Cellini, E.
AU - Parrini, E.
AU - Ricci, E.
AU - Donati, A. M.
AU - Silvestri, G.
N1 - LR: 20190204; CI: (c) 2017; JID: 9506311; EC 1.5.1.20 (Methylenetetrahydrofolate Reductase (NADPH2)); Methylenetetrahydrofolate reductase deficiency; OTO: NOTNLM; 2017/08/18 00:00 [received]; 2017/12/18 00:00 [accepted]; 2017/12/29 06:00 [pubmed]; 2019/02/05 06:00 [medline]; 2017/12/29 06:00 [entrez]; ppublish
PY - 2018/3/1
Y1 - 2018/3/1
N2 - 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 mumol/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.
AB - 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 mumol/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.
U2 - 10.1111/ene.13557 [doi]
DO - 10.1111/ene.13557 [doi]
M3 - Article
VL - 25
SP - 602
EP - 605
JO - European Journal of Neurology
JF - European Journal of Neurology
SN - 1351-5101
IS - 3
ER -