✦ LIBER ✦

Fatal familial insomnia: Clinical features and early identification

✍ Scribed by Anna Krasnianski; Mario Bartl; Pascual J. Sanchez Juan; Uta Heinemann; Bettina Meissner; Daniela Varges; Ulf Schulze-Sturm; Haus A. Kretzschmar; Walter J. Schulz-Schaeffer; Inga Zerr

Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 81 KB
Volume: 63
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.21358

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Early age of onset in fatal familial ins

Early age of onset in fatal familial insomnia

✍ A. Harder*; A. Gregor*; T. Wirth; F. Kreuz; W. J. Schulz-Schaeffer; O. Windl; M. 📂 Article 📅 2004 🏛 Springer 🌐 English ⚖ 368 KB

Clinical, histopathological and genetic

Clinical, histopathological and genetic studies in a family with fatal familial insomnia

✍ Xiao-Hong Shi; Jun Han; Jin Zhang; Qi Shi; Jian-Ming Chen; Sheng-Li Xia; Zhi-Qia 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 403 KB

We compared clinical data from two related Chinese patients with fatal familial insomnia (FFI) and collected information about their pedigree. The clinical features in the two cases were similar and included initial progressive insomnia and sympathetic activation, which persisted throughout the clin

Founder effect and recurrent mutational

Founder effect and recurrent mutational events in fatal familial insomnia

✍ José A. Peña; Miguel A. Alfonso-Sánchez; Ana B. Rodríguez-Martínez; Marian M. de 📂 Article 📅 2008 🏛 Springer 🌐 English ⚖ 51 KB

Alteration of the serotoninergic system

Alteration of the serotoninergic system in fatal familial insomnia

✍ Pietro Cortelli; Ronald Polinsky; Pasquale Montagna; Elio Lugaresi 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 115 KB 👁 2 views

Regional distribution of protease-resist

Regional distribution of protease-resistant prion protein in fatal familial insomnia

✍ Piero Parchi; Rudy Castellani; Pietro Cortelli; Pasquale Montagna; Dr Shu G. Che 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 900 KB

Protease-resistant prion protein, total prion protein, and glial fibrillary acidic protein were measured in various brain regions from 9 subjects with fatal familial insomnia. Six were homozygotes methionine/methionine at codon 129 (mean duration, 10.7 -C 4 months) and 3 were heterozygotes methionin

Clinical features of early onset, famili

Clinical features of early onset, familial Alzheimer's disease linked to chromosome 14

✍ Mullan, Michael ;Bennett, Craig ;Figueredo, Cecilia ;Hughes, David ;Mant, Rebecc 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 868 KB

Early onset familial Alzheimer's disease (AD) has an autosomal dominant mode of inheritance. T w o genes are responsible for the majority of cases of this subtype of AD. Mutations in the P-amyloid precursor protein (PAPP) gene on chromosome 21 have been shown to completely cosegregate with the disea