Title: Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene
Abstract: Annals of NeurologyVolume 49, Issue 2 p. 263-267 Brief Communication Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene Pau Pastor MD, Pau Pastor MD Parkinson's Disease and Movement Disorders Unit, Neurology Service, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, SpainSearch for more papers by this authorEliana Pastor MD, Eliana Pastor MD Neurology Service, Hospital Universitario Virgen de las Nieves, Granada, SpainSearch for more papers by this authorCristóbal Carnero MD, Cristóbal Carnero MD Neurology Service, Hospital Torrecárdenas, Almería, SpainSearch for more papers by this authorRosario Vela MD, Rosario Vela MD Neurology Service, Hospital Universitario Virgen de las Nieves, Granada, SpainSearch for more papers by this authorTeresa García MD, PhD, Teresa García MD, PhD Neurology Service, Hospital Universitario Virgen de las Nieves, Granada, SpainSearch for more papers by this authorGuillem Amer MD, PhD, Guillem Amer MD, PhD Neurology Service, Hospital Son Dureta, Palma de Mallorca, SpainSearch for more papers by this authorEduardo Tolosa MD, PhD, Eduardo Tolosa MD, PhD Parkinson's Disease and Movement Disorders Unit, Neurology Service, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, SpainSearch for more papers by this authorRafael Oliva MD, PhD, Corresponding Author Rafael Oliva MD, PhD [email protected] Genetics Service, Hospital Clínic Human Genome Research Group, Faculty of Medicine, University of Barcelona, IDIBAPS, Barcelona, SpainGenetics Service, Hospital Clínic Universitari, Villarroel 170, 08036 Barcelona, SpainSearch for more papers by this author Pau Pastor MD, Pau Pastor MD Parkinson's Disease and Movement Disorders Unit, Neurology Service, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, SpainSearch for more papers by this authorEliana Pastor MD, Eliana Pastor MD Neurology Service, Hospital Universitario Virgen de las Nieves, Granada, SpainSearch for more papers by this authorCristóbal Carnero MD, Cristóbal Carnero MD Neurology Service, Hospital Torrecárdenas, Almería, SpainSearch for more papers by this authorRosario Vela MD, Rosario Vela MD Neurology Service, Hospital Universitario Virgen de las Nieves, Granada, SpainSearch for more papers by this authorTeresa García MD, PhD, Teresa García MD, PhD Neurology Service, Hospital Universitario Virgen de las Nieves, Granada, SpainSearch for more papers by this authorGuillem Amer MD, PhD, Guillem Amer MD, PhD Neurology Service, Hospital Son Dureta, Palma de Mallorca, SpainSearch for more papers by this authorEduardo Tolosa MD, PhD, Eduardo Tolosa MD, PhD Parkinson's Disease and Movement Disorders Unit, Neurology Service, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, SpainSearch for more papers by this authorRafael Oliva MD, PhD, Corresponding Author Rafael Oliva MD, PhD [email protected] Genetics Service, Hospital Clínic Human Genome Research Group, Faculty of Medicine, University of Barcelona, IDIBAPS, Barcelona, SpainGenetics Service, Hospital Clínic Universitari, Villarroel 170, 08036 Barcelona, SpainSearch for more papers by this author First published: 07 February 2001 https://doi.org/10.1002/1531-8249(20010201)49:2<263::AID-ANA50>3.0.CO;2-KCitations: 120Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Abstract Heterozygous missense and splice-site mutations in the tau gene have been previously identified in familial frontotemporal dementia with autosomal dominant inheritance. Here we report a Spanish kindred in which two brothers born from a third-degree consanguineous marriage were both affected with atypical progressive supranuclear palsy. A homozygous deletion at codon 296 (delN296) was identified in one of the affected siblings. Among the heterozygous carriers, two members with probable Parkinson's disease were identified, but none of heterozygotes developed atypical parkinsonism. The delN296 mutation lies in the sequence corresponding to the second tubulin-binding repeat of tau protein and affects one asparagine residue absolutely conserved in other species. This finding indicates that homozygous mutations in the tau gene may also cause hereditary tauopathies. Ann Neurol 2001;49:263–267 Citing Literature Volume49, Issue21 February 2001Pages 263-267 RelatedInformation
Publication Year: 2001
Publication Date: 2001-01-01
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 160
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