Chorea-acanthocytosis: Report of two Brazilian cases

Movement Disorders

Volumn 23, Issue 14, 2008, Pages 2090-2093

  Rodrigues, Guilherme Riccioppo ^a   Walker, Ruth H ^b   Bader, Benedikt ^c   Danek, Adrian ^c   Marques Jr , Wilson ^a   Tumas, Vitor ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF MUNICH   (Germany)

Author keywords

Chorea acanthocytosis

Indexed keywords

ANTICONVULSIVE AGENT; CARBAMAZEPINE; CHOREIN; CREATINE KINASE; CYTOPLASM PROTEIN; UNCLASSIFIED DRUG;

ACANTHOCYTOSIS; ADULT; ARTICLE; BRADYPHRENIA; BRAZIL; CASE REPORT; CHOREA; CHOREA-ACANTHOCYTOSIS; COMPLEX PARTIAL SEIZURE; CREATINE KINASE BLOOD LEVEL; DYSARTHRIA; DYSPHAGIA; ELECTROMYOGRAM; EPILEPSY; FEMALE; HUMAN; HUMAN TISSUE; HYPOREFLEXIA; MAJOR DEPRESSION; MALE; MENTAL DISEASE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MYOPATHY; PRIORITY JOURNAL; PROTEIN DETERMINATION; SCHIZOPHRENIA; SUICIDAL IDEATION; UNSTEADINESS; WEAKNESS; WESTERN BLOTTING;

ACANTHOCYTES; ADULT; BRAZIL; CHOREA; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; VESICULAR TRANSPORT PROTEINS;

EID: 57049184100     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.22305     Document Type: Article

References (10)

1. Rampoldi L, Dobson-Stone C, Rubio JP, et al. A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet 2001;28:119-120.
2. Walker RH, Jung HH, Dobson-Stone C, et al. Neurologic phenotypes associated with acanthocytosis. Neurology 2007;68:92-98.
3. Ueno S, Maruki Y, Nakamura M, et al. The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat Genet 2001;28:121-122.
4. Dobson-Stone C, Velayos-Baeza A, Filippone LA, et al. Chorein detection for the diagnosis of chorea-acanthocytosis. Ann Neurol 2004;56:299-302.
5. Kurano Y, Nakamura M, Ichiba M, et al. In vivo distribution and localization of chorein. Biochem Biophys Res Commun 2007; 353:431-435.
6. Dobson-Stone C, Danek A, Rampoldi L, et al. Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet 2002;10:773-781.
7. Ichiba M, Nakamura M, Kusumoto A, et al. Clinical and molecular genetic assessment of a chorea-acanthocytosis pedigree. J Neurol Sci 2007;263:124-132.
8. Feinberg TE, Cianci CD, Morrow JS, et al. Diagnostic tests for choreoacanthocytosis. Neurology 1991;41:1000-1006.
9. Storch A, Kornhass M, Schwarz J. Testing for acanthocytosis - a prospective reader-blinded study in movement disorder patients. J Neurol 2005;252:84-90.
10. Sorrentino G, Renzo A, Miniello S, Nori O, Bonavita V. Late appearance of acanthocytes during the course of chorea-acanthocytosis. J Neurol Sci 1999;163:175-178.