TABLE 3

Table 3.  Mutations of the chromosome 20 'prion' gene associated with inherited forms of transmissible spongiform encephalopathy.


MUTATION

DISEASE PHENOTYPE

OCTA-REPEAT INSERTIONS OF 24, 48, 96, 120, 144, 168, 192 OR 216 BASE PAIRS BETWEEN CODONS 51 & 91

CJD, GSS OR ATYPICAL DEMENTIAS

P102L (PRO LEU)

GSS: CLASSICAL ATAXIC FORM

P105L (PRO LEU)

GSS: SPASTIC PARAPARETIC VARIANT

A117V (ALA VAL)

GSS: PSEUDOBULBAR VARIANT

G131V (GLY VAL)

GSS: CLASSICAL ATAXIC FORM

Y145* (TRY STOP)

ALZHEIMER-LIKE DEMENTIA

D178N (ASP ASN)

CJD (129V ON MUTANT ALLELE)

D178N (ASP ASN)

FFI (129M ON MUTANT ALLELE)

V180I (VAL LLE)

CJD

T183A (THR ALA)

ALZHEIMER-LIKE DEMENTIA

H187R (HIS ARG)

GSS: CLASSICAL ATAXIC FORM

F198S (PHE SER)

GSS WITH NEUROFIBRILLARY TANGLES

E200K (GLU LYS)

CJD

D202N (ASP ASN)

GSS WITH NEUROFIBRILLARY TANGLES

V203I (VAL LLE)

CJD

R208H (ARG HIS)

CJD

V210I (VAL LLE)

CJD

E211Q (GLU GLN)

CJD

Q212P (GLN PRO)

GSS WITH LEWY BODIES

E217R (GLU ARG)

GSS WITH NEUROFIBRILLARY TANGLES

M23R (MET ARG)

CJD

CJD =

   Creutzfeldt-Jakob disease;

GSS =

    Gerstmann-Straussler-Scheinker syndrome;

FFI =

    fatal familial insomnia.