Methylenetetrahydrofolate reductase deficiency (homocystinuria type II) as a rare cause of rapidly progressive tetraspasticity and psychosis in a previously healthy adult

Journal of Neurology

Volumn 255, Issue 11, 2008, Pages 1845-1846

  Birnbaum, T ^a   Blom, H J ^b   Prokisch, H ^c   Hartig, M ^c   Klopstock, T ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c TECHNICAL UNIVERSITY OF MUNICH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BENZODIAZEPINE DERIVATIVE; BETAINE; CYANOCOBALAMIN; FOLIC ACID; METHIONINE; NEUROLEPTIC AGENT; PYRIDOXINE; RIBOFLAVIN;

ADULT; ANAMNESIS; ATAXIA; BRAIN ATROPHY; CASE REPORT; CLINICAL FEATURE; ENZYME ACTIVITY; HOMOCYSTINURIA; HOMOCYSTINURIA TYPE II; HUMAN; LABORATORY TEST; LETTER; LEUKOENCEPHALOPATHY; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PSYCHOSIS; QUADRIPLEGIA;

ADULT; BRAIN; HOMOCYSTINURIA; HUMANS; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MUSCLE SPASTICITY; MUTATION, MISSENSE; PSYCHOTIC DISORDERS;

EID: 58549110613     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-008-0043-3     Document Type: Letter

References (11)

1. Ogier de Baulny 1998 Eur J Pediatr 157 77
2. Tonetti 2002 Br J Haematol 119 397
3. Morel 2005 Mol Genet Metab 85 115
4. Goyette 1995 Am J Hum Genet 56 1052
5. Tonetti 2001 J Inherit Metab Dis 24 833
6. Gilbody 2007 Am J Epidemiol 165 1
7. Pasquier 1994 J Neurol Neurosurg Psychiatr 57 765
8. Regland 1994 J Neural Transm 98 143
9. Walk 1994 Neurology 44 344
10. Haworth 1993 Am J Med Genet 45 572
11. Tonetti 2003 Eur J Pediatr 162 466