Dystonia, tremor, and parkinsonism in a 54 year old man with 2-hydroxyglutaric aciduria [1]

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 75, Issue 9, 2004, Pages 1362-1363

  Owens, W E ^a   Okun, M S ^a  

^a UNIVERSITY OF FLORIDA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DOPAMINE RECEPTOR STIMULATING AGENT; GLUTARIC ACID; LEVODOPA; MONOAMINE OXIDASE INHIBITOR;

ACIDURIA; ADULT; AGGRESSION; ANAMNESIS; BALANCE DISORDER; CASE REPORT; CEREBRAL PALSY; CRANIAL NERVE; DEVELOPMENTAL DISORDER; DIAGNOSTIC PROCEDURE; DYSTONIA; HUMAN; LETTER; MALE; MOTOR DYSFUNCTION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PARKINSON DISEASE; PATIENT REFERRAL; PATTERN RECOGNITION; PRIORITY JOURNAL; TREMOR;

EID: 4344666075     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.2003.033571     Document Type: Letter

References (7)

1. Duran M, Kamerling JP, Bakker HD, et al. L-2hydroxyglutaric aciduria: an inborn error of metabolism? J Inherit Metab Dis 1980;3:11-15.
2. Barth PG, Hoffman GF, Jaeken J, et al. L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase. J Inherit Metab Dis 1993;16:753-61.
3. Van der Knaap MS, Jacobs C, Hoffmann GF. D-2-hydroxyglutaic aciduria: biochemical marker or clinical disease entity? Ann Neurol 1999;45:111-19.
4. Baker NS, Sarnat HB, Jack RM, et al. D-2-hydroxyglutaic aciduria: hypotonia, cortical blindness, seizures, cardiomyopathy and cylindrical spirals in skeletal muscle. J Child Neurol 1997;12:31-6.
5. Barbot C, Fineza I, Diogo L, et al. L-2-hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients. Brain Dev 1997;19:268-73.
6. Clerc C, Bataillard M, Richard P, et al. An adult form of L-2-hydroxyglutaric aciduria revealed by tremor. Eur Neurol 2000;43:119-20.
7. Larnaout A, Hentati F, Belal S, et al. Clinical and pathological study of three Tunisian siblings with L-2-hydroxyglutaric aciduria. Acta Neuropathol (Berl) 1994;88:367-70.