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Article

Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene.

Annals of neurology - 1 Feb 2001

Pastor P, Pastor E, Carnero C, Vela R, García T, Amer G, Tolosa E, Oliva R

Abstract excerpt

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...

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Share to Amyotrophic Lateral Sclerosis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11220749
DOI: 10.1002/1531-8249(20010201)49:2<263::aid-ana50>3.0.co;2-k

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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