Early onset fatal familial insomnia with rapid progression in a Chinese family line [10]

Journal of Neurology

Volumn 254, Issue 9, 2007, Pages 1300-1301

  Yu, Shuiliang ^a,c   Zhang, Yunjian ^b   Li, Shu ^a   Sy, Man Sun ^c   Sun, Shenggang ^b   Tien, Po ^a   Xiao, Gengfu ^a  

^a WUHAN UNIVERSITY   (China)

^b HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^c CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; METHIONINE;

ADULT; CASE REPORT; CHINESE; CLINICAL FEATURE; CODON; COMPUTER ASSISTED TOMOGRAPHY; DEMENTIA; DISEASE COURSE; DIZZINESS; ELECTROCARDIOGRAM; FAMILY RELATION; FATAL FAMILIAL INSOMNIA; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HALLUCINATION; HOMOZYGOSITY; HUMAN; HYPERTENSION; INVOLUNTARY MOVEMENT; LETTER; MALE; MYOCLONUS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SOMNOLENCE; SUPRAVENTRICULAR TACHYCARDIA;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CHINA; DISEASE PROGRESSION; FATAL OUTCOME; FEMALE; HETEROZYGOTE DETECTION; HUMANS; INSOMNIA, FATAL FAMILIAL; MALE; MUTATION; PEDIGREE; PRIONS;

EID: 36148948626     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-006-0517-0     Document Type: Letter

References (6)

1. Montagna P, Gambetti P, Cortelli P, Lugaresi E (2003) Familial and sporadic fatal insomnia. Lancet Neurol 2:167-176
2. Harder A, Gregor A, Wirth T, Kreuz F, Schulz-Schaeffer WJ, Windl O, Plotkin M, Amthauer H, Neukirch K, Kretzschmar HA, Kuhlmann T, Braas R, Hahne HH, Jendroska K (2004) Early age of onset in fatal familial insomnia. Two novel cases and review of the literature. J Neurol 251:715-724
3. Parchi P, Petersen RB, Chen SG, Autilio- Gambetti L, Capellari S, Monari L, Cortelli P, Montagna P, Lugaresi E, Gambetti P (1998) Molecular pathology of fatal familial insomnia. Brain Pathol 8:539-548
4. Yu SL, Jin L, Sy MS, Mei FH, Kang SL, Sun GH, Tien P, Wang FS, Xiao GF (2004) Polymorphisms of the PRNP gene in Chinese populations and the identification of a novel insertion mutation. Eur J Hum Genet 12:867-870
5. Zarranz JJ, Digon A, Atares B, Rodriguez- Martinez AB, Arce A, Carrera N, Fernandez-Manchola I, Fernandez-Martinez M, Fernandez-Maiztegui C, Forcadas I, Galdos L, Gomez-Esteban JC, Ibanez A, Lezcano E, Lopez de Munain A, Marti-Masso JF, Mendibe MM, Urtasun M, Uterga JM, Saracibar N, Velasco F, de Pancorbo MM (2005) Phenotypic variability in familial prion diseases due to the D178N mutation. J Neurol Neurosurg Psychiatry 76:1491-1496
6. Spacey SD, Pastore M, McGillivray B, Fleming J, Gambetti P, Feldman H (2004) Fatal familial insomnia: the first account in a family of Chinese descent. Arch Neurol 61:122-125