Huntington disease phenocopy is a familial prion disease

American Journal of Human Genetics

Volumn 69, Issue 6, 2001, Pages 1385-1388

  Moore, Richard C ^a   Xiang, Fengqing ^c   Monaghan, Jeffrey ^a   Han, Dong ^a   Zhang, Zhiping ^c   Edström, Lars ^c   Anvret, Maria ^c   Prusiner, Stanley B ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c KAROLINSKA INSTITUTE   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYTOSINE; GENE PRODUCT; GUANINE; HUNTINGTIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 20P; CLINICAL FEATURE; DEGENERATIVE DISEASE; GENE INSERTION; GENE MUTATION; GENETIC SCREENING; HUMAN; HUNTINGTON CHOREA; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PRION DISEASE; PRIORITY JOURNAL; RELIABILITY;

EID: 0035209233     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/324414     Document Type: Article

References (20)

1. Huntington disease without CAG expansion: Phenocopies or errors in assignment?
2. Human spongiform encephalopathy: The National Institutes of Health series of 300 cases of experimentally transmitted disease
3. Accumulation of protease-resistant prion protein (PrP) and apoptosis of cerebellar granule cells in transgenic mice expressing a PrP insertional mutation
4. Neurological illness in transgenic mice expressing a prion protein with an insertional mutation
5. Inherited prion disease with 144 base pair gene insertion. 2. clinical and pathological features
6. Dementia associated with a 216 base pair insertion in the prion protein gene: Clinical and neuropathological features
7. Inherited prion diseases
8. Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene
9. Prion disease associated with a novel nine octapeptide repeat expansion in the PRNP gene
10. A worldwide study of the Huntington's disease mutation: The sensitivity and specificity of measuring CAG repeats
11. Molecular cloning of a human prion protein cDNA
12. Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene
13. Complete genomic sequence and analysis of the prion protein gene region from three mammalian species
14. Interpretation of linkage data for a Huntington-like disorder mapping to 4p15.3
15. Ataxia in prion protein (PrP)-deficient mice is associated with upregulation of the novel PrP-like protein doppel
16. A dementing illness associated with a novel insertion in the prion protein gene
17. Sequence variation in intron of prion protein gene, crucial for complete diagnostic strategies
18. Inherited prion disease with 144 base pair insertion. I. Genealogical and molecular studies
19. Genomic structure of the human prion protein gene
20. A Huntington disease-like neurodegenerative disorder maps to chromosome 20p