Homozygous SCA 2 mutations changes phenotype and hastens progression

Movement Disorders

Volumn 23, Issue 5, 2008, Pages 770-771

  Ragothaman, Mona ^a   Muthane, Uday ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH AND NEUROSCIENCES   (India)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN PROTEIN; CARBIDOPA PLUS LEVODOPA; CLOZAPINE; PROTEIN SCA2; ROPINIROLE; UNCLASSIFIED DRUG; ANTIPARKINSON AGENT; LEVODOPA; NERVE PROTEIN; SCA2 PROTEIN;

ATAXIA; DEMENTIA; DISEASE COURSE; DISEASE SEVERITY; DYSKINESIA; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LETTER; MINI MENTAL STATE EXAMINATION; NEUROLOGIC DISEASE; NEUROPSYCHOLOGICAL TEST; PARANOID PSYCHOSIS; PARKINSONISM; PHENOTYPE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SACCADIC EYE MOVEMENT; CASE REPORT; EYE MOVEMENT DISORDER; FEMALE; FOLLOW UP; GENETICS; HOMOZYGOTE; MALE; MUTATION; PATHOPHYSIOLOGY; PSYCHOSIS; SPINOCEREBELLAR DEGENERATION;

ANTIPARKINSON AGENTS; DEMENTIA; DISEASE PROGRESSION; DYSKINESIAS; FEMALE; FOLLOW-UP STUDIES; HOMOZYGOTE; HUMANS; LEVODOPA; MALE; MUTATION; NERVE TISSUE PROTEINS; OCULAR MOTILITY DISORDERS; PARKINSONIAN DISORDERS; PHENOTYPE; PSYCHOTIC DISORDERS; SPINOCEREBELLAR DEGENERATIONS;

EID: 44449114618     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.21950     Document Type: Letter

References (2)

1. Ragothaman M, Sarangmath N, Chaudhary S, et al. Complex phenotypes in an Indian family with homozygous SCA2 mutations. Ann Neurol 2004;55:130-133.
2. Squitieri F, Gellera C, Cannella M, et al. Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course. Brain 2003;126:946-955.