Tremor and deep white matter changes in α-methylacyl-CoA racemase deficiency

Neurology

Volumn 63, Issue 1, 2004, Pages 188-189

  Clarke, C E ^a,c   Alger, S ^b   Preece, M A ^b   Burdon, M A ^c   Chavda, S ^c   Denis, S ^d   Ferdinandusse, S ^d   Wanders, R J A ^d  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^c CITY HOSPITAL   (United Kingdom)

^d UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

2 METHYLACYL COENZYME A RACEMASE; BILE ACID; CHOLESTEROL DERIVATIVE; DIHYDROXYCHOLANOIC ACID; PHYTANIC ACID; PRISTANATE; PRISTANE; RACEMASE; TAURINE DERIVATIVE; TRIHYDROXYCHOLESTANOIC ACID; UNCLASSIFIED DRUG; VERY LONG CHAIN FATTY ACID;

ADULT; AGITATION; AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; ASTHMA; BRAIN DISEASE; CASE REPORT; CATARACT; CEREBELLUM DISEASE; CEREBROSPINAL FLUID ANALYSIS; CLINICAL FEATURE; CONFUSION; CONSCIOUSNESS DISORDER; DEPRESSION; DIET THERAPY; DISORDERS OF PEROXISOMAL FUNCTIONS; DYSARTHRIA; ELECTROENCEPHALOGRAM; ELECTRORETINOGRAPHY; ENZYME DEFICIENCY; EVOKED VISUAL RESPONSE; EXTRAPYRAMIDAL SYMPTOM; FAMILY HISTORY; FEMALE; GLASGOW COMA SCALE; HEADACHE; HEMIPARESIS; HEREDITARY OPTIC ATROPHY; HUMAN; MIGRAINE; NAUSEA; NUCLEAR MAGNETIC RESONANCE IMAGING; PLASMAPHERESIS; POINT MUTATION; PRIORITY JOURNAL; PSYCHOMETRY; REFSUM DISEASE; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS; TREMOR; VISUAL ACUITY; VISUAL DISCRIMINATION; VISUAL DISORDER; VOMITING; WHITE MATTER;

EID: 3242705763     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000132841.81250.B7     Document Type: Article

References (5)

1. McLean BN, Allen J, Ferdinandusse S, Wanders RJA. A new defect of peroxisomal function involving pristanic acid: a case report. J Neurol Neurosurg Psychiatry 2002;72:396-399.
2. Ferdinandusse S, Denis S, Clayton PT, et al. Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Nat Genet 2000;24:188-191.
3. Van Veldhoven P, Meyhi E, Squires R, et al. Fibroblast studies documenting a case of peroxisomal 2-methylacyl-CoA racemase deficiency: possible link between racemase deficiency and malabsorption and vitamin K deficiency. Eur J Clin Invest 2001;31:714-722.
4. Wanders R, Jansen G, Skjeldal O. Refsum's disease, peroxisomes and phytanic acid oxidation: a review. J Neuropathol Exp Neurol 2001;60:1021-1031.
5. Hungerbuhler J, Meier C, Rousselle L, Quadri P, Bogousslavsky J. Refsum's disease: management by diet and plasmapheresis. Eur Neurol 1985;24:153-159.