Coincidence of a large SCA12 repeat allele with a case of Creutzfeld-Jacob disease [2]

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 75, Issue 6, 2004, Pages 937-938

  Hellenbroich, Y ^a   Schulz Schaeffer, W ^b   Nitschke, M F ^a   Kohnke J ^a   Handler G ^a   Burk K ^c   Schwinger, E ^a   Zuhlke C ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

^b UNIVERSITY OF GÖTTINGEN   (Germany)

^c UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELE; ANAMNESIS; CASE REPORT; CAUSE OF DEATH; CHROMOSOME; CLINICAL FEATURE; CONTROLLED STUDY; CREUTZFELDT JAKOB DISEASE; GENE MUTATION; HUMAN; LABORATORY TEST; LETTER; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SENSORIMOTOR NEUROPATHY; SPINOCEREBELLAR DEGENERATION;

ALLELES; BRAIN; COMORBIDITY; CREUTZFELDT-JAKOB SYNDROME; DNA REPEAT EXPANSION; GERMANY; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; PHOSPHOPROTEIN PHOSPHATASE; SPINOCEREBELLAR ATAXIAS;

EID: 2442644097     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.2003.028381     Document Type: Letter

References (5)

1. Holmes SE, O'Hearn EE, McInnis MG, et al. Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12. Nat Genet 1999;23:391-2.
2. O'Hearn E, Holmes SE, Calvert PC, et al. SCA-12: Tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion. Neurology 2001;56:299-303.
3. Parchi P, Giese A, Capellari S, et al. Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Ann Neurol 1999;46:224-33.
4. Srivastava AK, Choudhry S, Gopinath MS, et al. Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12. Ann Neurol 2001;50:796-800.
5. Fujigasaki H, Verma IC, Camuzat A, et al. SCA12 is a rare locus for autosomal dominant cerebellar atoxia: a study of an Indian family. Ann Neurol 2001;49:117-21.