Fatal familial insomnia: Clinical, neuropathological, and genetic description of a Spanish family

Journal of Neurology Neurosurgery and Psychiatry

Volumn 68, Issue 6, 2000, Pages 774-777

  Tabernero, C ^a   Figols, J ^b   Cuadrado, N ^d   Claveria, L E ^a   Polo, J M ^b   Sevillano, M D ^a   Munoz R ^b   Berciano, J ^b   Cabello, A ^c   Baez B ^c   Ricoy, J R ^c   Carpizo, R ^b  

^a HOSPITAL GENERAL DE SEGOVIA   (Spain)

^b HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^c HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^d INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

Prion diseases; Sleep disorders; Thalamus

Indexed keywords

ASPARAGINE; METHIONINE; PRION PROTEIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BEHAVIOR DISORDER; BRAIN BIOPSY; BRAIN CORTEX ATROPHY; BRAIN DEGENERATION; BRAIN SPONGIOSIS; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; FATAL FAMILIAL INSOMNIA; FEMALE; GENETIC ANALYSIS; GENOTYPE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MORTALITY; MOTHER; NEUROPATHOLOGY; OLIVARY NUCLEUS; POINT MUTATION; PRIORITY JOURNAL; PROGENY; SPAIN; SYMPTOM; THALAMUS;

BIOPSY; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; FEMALE; FRONTAL LOBE; GENES, DOMINANT; GENOTYPE; HUMANS; MALE; MIDDLE AGED; NEUROPSYCHOLOGICAL TESTS; OLIVARY NUCLEUS; PEDIGREE; POINT MUTATION; PRION DISEASES; PRIONS; THALAMUS;

EID: 0034078551     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.68.6.774     Document Type: Article

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