Discordant clinicopathologic phenotypes in a japanese kindred of fatal familial insomnia

Neurology

Volumn 74, Issue 1, 2010, Pages 86-89

  Saitoh, Y ^a,d   Ogawa, M ^a   Naito, Y ^e,f   Komatsuzaki, Y ^e,g   Tagaya, H ^b   Arima, K ^b,c   Tamaoka, A ⁱ   Kitamoto, T ^h,j   Murata, M ^a  

^a National Center Hospital of Neurology and Psychiatry   (Japan)

^b Laboratory Medicine

^c National Center Hospital of Neurology and Psychiatry   (Japan)

^d NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^e Hatsuishi Hospital   (Japan)

^f MIE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^g Miraidaira Clinic   (Japan)

^h KITASATO UNIVERSITY   (Japan)

ⁱ UNIVERSITY OF TSUKUBA   (Japan)

^j TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

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Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANOREXIA; ARTICLE; ATAXIA; CASE REPORT; CONSTIPATION; CREUTZFELDT JAKOB DISEASE; DIPLOPIA; DNA POLYMORPHISM; DYSPHAGIA; FATAL FAMILIAL INSOMNIA; FEMALE; FEVER; HISTOPATHOLOGY; HUMAN; HYPERHIDROSIS; IMPOTENCE; INSOMNIA; JAPANESE; MALE; NEUROLOGIC EXAMINATION; PHENOTYPE; PRIORITY JOURNAL; SLEEP APNEA SYNDROME; SOMNOLENCE; TACHYCARDIA; TREMOR; ASIAN; FAMILY HEALTH; GENETICS; MIDDLE AGED; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PRION; SCINTISCANNING;

ASPARAGINE; ASPARTIC ACID;

ASIAN CONTINENTAL ANCESTRY GROUP; ASPARAGINE; ASPARTIC ACID; FAMILY HEALTH; FEMALE; HUMANS; INSOMNIA, FATAL FAMILIAL; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PRIONS;

EID: 74049132654     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181c7da09     Document Type: Article

References (7)

1. Medori R, Tritschler HJ, LeBlanc A, et al. Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene. N Engl J Med 1992;326:444-449.
2. Goldfarb LG, Petersen RB, Tabaton M, et al. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. Science 1992;258:806-808.
3. McLean CA, Storey E, Gardner RJ, Tannenberg AE, Cer-venakova L, Brown P. The D178N (cis-129M) "fatal familial insomnia" mutation associated with diverse clinicopathologic phenotypes in an Australian kindred. Neurology 1997;49:552-558.
4. Harder A, Jendroska K, Kreuz F, et al. Novel twelve-generation kindred of fatal familial insomnia from Germany representing the entire spectrum of disease expression. Am J Med Genet 1999;87:311-316.
5. Zarranz JJ, Digon A, Atares B, et al. Phenotypic variability in familial prion diseases due to the D178N mutation. J Neurol Neurosurg Psychiatry 2005;76:1491-1496.
6. 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: 224-233.
7. Monari L, Chen SG, Brown P, et al. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: different prion proteins determined by a DNA polymorphism. Proc Natl Acad Sci USA 1994;91:2839-2842.