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A New Mutation of the Gene, G303V, in Early-Onset Familial Progressive Supranuclear Palsy

Raquel Ros, PhD; Stéphane Thobois, MD; Nathalie Streichenberger, MD; Nicolas Kopp, MD; Marina P. Sánchez, PhD; Mar Pérez, PhD; Janet Hoenicka, PhD; Jesús Avila, PhD; Jerome Honnorat, MD; Justo G. de Yébenes, MD, PhD

Arch Neurol. 2005;62:1444-1450.

Background  Progressive supranuclear palsy (PSP) is a clinicopathological syndrome related to deposits and in linkage disequilibrium with polymorphisms. Some rare familial PSP cases have been related to gene mutations.

Objective  To present the clinical, pathological, and molecular data of one family with early-onset autosomal dominant PSP.

Design  We performed clinical examinations, quantitative neurological tests, positron emission tomographic scans with fluorodopa F 18 and raclopride C 11, analysis of mutations, neuropathological examinations, and protein analyses on brain specimens.

Results  Three family members had PSP confirmed by pathological features in the proband. A novel mutation of , G303V, was found in the proband and other family members. Isoforms with 4 microtubule-binding repeats were overexpressed in the proband brain.

Conclusions  The G303V mutation of is associated with autosomal dominant PSP. Expression of 4 microtubule-binding repeat isoforms is increased in the proband.

Author Affiliations: Banco de Tejidos para Investigaciones Neurológicas (Drs Ros, Hoenicka, and de Yébenes), and Fundación Jiménez Díaz (Drs Sánchez and de Yébenes) and Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas (Drs Pérez and Avila), Universidad Autónoma de Madrid, Madrid, Spain; Centre d’Exploration et de Recherche Médical par Emission de Positrons and Neurology D (Dr Thobois) and Department of Neuro-Pathology (Drs Streichenberger and Kopp), and Neurologie B (Dr Honnorat), Hôpital Neurologique, Université Claude Bernard Lyon1, Lyon, France.

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