Psychosis, paraplegia and coma revealing methylenetetrahydrofolate reductase deficiency in a 56-year-old woman

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 79, Issue 8, 2008, Pages 963-964

  Michot, J M ^a   Sedel, F ^b   Giraudier, S ^c   Smiejan, J M ^a   Papo, Thomas ^a,d  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c UNIVERSITÉ PARIS EST CRÉTEIL   (France)

^d BICHAT HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BETAINE; FOLIC ACID; FOLINIC ACID; HALOPERIDOL; HYDROXOCOBALAMIN; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); HOMOCYSTEINE; METHIONINE;

ADULT; CASE REPORT; CEREBROSPINAL FLUID LEVEL; CLINICAL EXAMINATION; COMPUTER ASSISTED TOMOGRAPHY; DEPRESSION; ELECTROENCEPHALOGRAPHY; ENZYME DEFICIENCY; FEMALE; FOLIC ACID BLOOD LEVEL; GENE SEQUENCE; HOSPITAL ADMISSION; HUMAN; HYSTERECTOMY; LABORATORY TEST; LETTER; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PARAPLEGIA; PRIORITY JOURNAL; PSYCHOSIS; VISUAL HALLUCINATION; BLOOD; BRAIN; CATATONIA; CHROMOSOME 1; CHROMOSOME ABERRATION; COMA; DEMENTIA; ENZYMOLOGY; EXON; GENETIC POLYMORPHISM; GENETICS; METABOLIC ENCEPHALOPATHY; MISSENSE MUTATION; PATHOLOGY; RECESSIVE GENE;

BRAIN; BRAIN DISEASES, METABOLIC, INBORN; CATATONIA; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 1; COMA; DEMENTIA; EXONS; FOLIC ACID; GENES, RECESSIVE; HOMOCYSTEINE; HUMANS; MAGNETIC RESONANCE IMAGING; METHIONINE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MUTATION, MISSENSE; NEUROLOGIC EXAMINATION; PARAPLEGIA; POLYMORPHISM, GENETIC; PSYCHOTIC DISORDERS;

EID: 48249117092     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2008.143677     Document Type: Letter

References (5)

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2. Freeman JM, Finkelstein JD, Mudd SH. Folate-responsive homocystinuria and "schizophrenia". A defect in methylation due to deficient 5,10-methylenetetrahydrofolate reductase activity. N Engl J Med 1975;292:491-6.
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