Document Detail

Gait disorders in fatal familial insomnia.
MedLine Citation:
PMID:  24375448     Owner:  NLM     Status:  Publisher    
BACKGROUND: Fatal familial insomnia (FFI) is a hereditary autosomal-dominant prion disease linked to a mutation of the prion protein gene and characterized by sleep and autonomic abnormalities at onset followed by motor disturbances. We describe gait abnormalities in 13 FFI cases with different disease durations.
METHODS: Clinical records and corresponding videos of 13 FFI cases were regularly monitored from disease onset to death.
RESULTS: Gait disturbances appeared in all FFI subjects 5 ± 2 months after disease onset following a distinct progression for the 2 genetic FFI variants. Homozygous patients developed only a cautious gait with some difficulties in turning and in tandem gait; heterozygous patients showed a clear progressive worsening of equilibrium with latero/retropulsion ultimately preventing standing and walking unaided.
CONCLUSIONS: The severity and features of gait dysfunction in FFI are related to the duration of the disease, which in turn is a result of the genotype. The evolving gait dysfunction in the disease course may mirror the spread of neuronal degeneration from the thalamus to other brain areas involved in the control of gait or may be the functional effect of a disturbed neuronal network in which the thalamus is a crucial relay. © 2013 International Parkinson and Movement Disorder Society.
Pietro Cortelli; Margherita Fabbri; Giovanna Calandra-Buonaura; Sabina Capellari; Paolo Tinuper; Piero Parchi; Elio Lugaresi
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-12-27
Journal Detail:
Title:  Movement disorders : official journal of the Movement Disorder Society     Volume:  -     ISSN:  1531-8257     ISO Abbreviation:  Mov. Disord.     Publication Date:  2013 Dec 
Date Detail:
Created Date:  2013-12-30     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8610688     Medline TA:  Mov Disord     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2013 Movement Disorder Society.
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