Document Detail

Pure akinesia as initial presentation of PSP: a clinicopathological study.
MedLine Citation:
PMID:  18325816     Owner:  NLM     Status:  MEDLINE    
Pure akinesia (PA) is a rare neurodegenerative condition that may represent a limited expression of progressive supranuclear palsy (PSP). Only a few pathological studies have been reported and its classification remains unclear. We report the case of a 57-year-old Caucasian man who was initially clinically diagnosed with classical PA. After four years the patient developed additional symptoms and signs compatible with the diagnosis of clinically probable PSP. The diagnosis of PSP was confirmed by post-mortem examination. Genetic analysis of the MAPT gene revealed an A0/A0 genotype, which has been repeatedly associated with the PSP phenotype, and might discriminate between PA and other gait disorders. Our case strengthens the hypothesis that PA should be considered as initial manifestation of PSP.
Maurizio Francesco Facheris; Susanna Maniak; Francesco Scaravilli; Birgit Schüle; Christine Klein; Peter Paul Pramstaller
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-03-05
Journal Detail:
Title:  Parkinsonism & related disorders     Volume:  14     ISSN:  1353-8020     ISO Abbreviation:  Parkinsonism Relat. Disord.     Publication Date:  2008 Aug 
Date Detail:
Created Date:  2008-08-25     Completed Date:  2008-11-03     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9513583     Medline TA:  Parkinsonism Relat Disord     Country:  England    
Other Details:
Languages:  eng     Pagination:  517-9     Citation Subset:  IM    
Department of Neurology, Central Hospital Bolzano-Bozen, Bolzano-Bozen, Italy.
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MeSH Terms
Brain / pathology
Gait Disorders, Neurologic / pathology
Globus Pallidus / pathology
Magnetic Resonance Imaging
Middle Aged
Movement Disorders / diagnosis,  etiology*,  pathology
Neurofibrillary Tangles / pathology
Neurons / pathology
Supranuclear Palsy, Progressive / diagnosis,  etiology*,  pathology

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