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Gait disorders in fatal familial insomnia

Authors

  • Pietro Cortelli MD, PhD,

    Corresponding author
    1. IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy
    2. Department of Biomedical and NeuroMotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy
    • Correspondence to: Pietro Cortelli, IRCCS Istituto delle Scienze Neurologiche di Bologna, Department of Biomedical and NeuroMotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Ospedale Bellaria Via Altura, 3–40139 Bologna, Italy; pietro.cortelli@unibo.it

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  • Margherita Fabbri MD,

    1. IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy
    2. Department of Biomedical and NeuroMotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy
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  • Giovanna Calandra-Buonaura MD, PhD,

    1. IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy
    2. Department of Biomedical and NeuroMotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy
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  • Sabina Capellari MD,

    1. IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy
    2. Department of Biomedical and NeuroMotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy
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  • Paolo Tinuper MD,

    1. IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy
    2. Department of Biomedical and NeuroMotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy
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  • Piero Parchi MD, PhD,

    1. IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy
    2. Department of Biomedical and NeuroMotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy
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  • Elio Lugaresi MD

    1. IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy
    2. Department of Biomedical and NeuroMotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy
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  • Relevant conflicts of interest/financial disclosures: Nothing to report.

  • Full financial disclosures and author roles may be found in the online version of this article.

ABSTRACT

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

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