Cerebrotendinous xanthomatosis with oromandibular dyskinesia

Neurology India

Volumn 51, Issue 4, 2003, Pages 556-558

  Bordia, S ^a   Saifee, A A ^a  

^a RNT MEDICAL COLLEGE   (India)

Author keywords

Cerebrotendinous xanthomatosis; Oromandibular dyskinesia

Indexed keywords

ADULT; ARTICLE; BIOPSY; BLEPHAROSPASM; CASE REPORT; CEREBROTENDINOUS XANTHOMATOSIS; CLINICAL FEATURE; DISEASE ASSOCIATION; DYSKINESIA; FEMALE; HISTOPATHOLOGY; HUMAN; JOINT DISLOCATION; LABORATORY TEST; LIMB SWELLING; NEUROLOGIC EXAMINATION; OROFACIAL DYSKINESIA; PATHOLOGY; PHONATION; TEMPOROMANDIBULAR JOINT DISORDER;

BIOPSY; DYSKINESIA, DRUG-INDUCED; FEMALE; HUMANS; MIDDLE AGED; TEMPOROMANDIBULAR JOINT DISORDERS; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 1042280366     PISSN: 00283886     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (2)

1. James R, Schimschock MD, Ellsworth C, Alvord Jr, MD, Phillip D. Swanson, MD. Saattle: Carebrotandious Xanthomatosis Clinical and Pathological Studies: Arch Neurol 1968;18:688-97.
2. Wakamatsu N, Hayashi M, Kawai H, Kando H, Gotodo Y, Nishida Y, et al. Mutations producing premature termination of translation and an amine acid substitution in the sterol 27 hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism. J Neurol Neurosurge Psychiatry 1999;67:195-8.