home : about us : ahead of print : current issue : archives search instructions : subscriptionLogin 
Users online: 989      Small font sizeDefault font sizeIncrease font size Print this page Email this page
Year : 2021  |  Volume : 16  |  Issue : 2  |  Page : 153-155

Rapidly progressive spastic paraplegia due to hyperhomocysteinemia in child with MTHFR gene mutation and mitochondrial Complex I deficiency: A rare association

Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India

Correspondence Address:
Dr. Rohan R Mahale
Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore 560029, Karnataka.
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jpn.JPN_96_20

Rights and Permissions

MTHFR enzyme deficiency is an autosomal-recessive inborn error of folate metabolism. The deficiency cause defect in the remethylation of homocysteine to methionine leading to increased blood levels of homocysteine. Hyperhomocysteinemia in infants cause seizures, hypotonia, apnoea, microcephaly, progressing to coma and death if untreated whereas in childhood onset it causes developmental delay, seizures, psychiatric disturbances, spastic gait, and ataxia. We report a 10-year-old girl with rapidly progressive spastic paraplegia requiring wheelchair ambulation within 3 months of symptom onset with behavioral disturbances. Plasma homocysteine and plasma lactate were high with normal vitamin B12 levels. Clinical exome sequencing showed homozygous missense mutation in MTHFR gene which was likely pathogenic variant. Respiratory chain complex assay from muscle sample showed reduced complex 1 deficiency (<20%).


Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded60    
    Comments [Add]    

Recommend this journal