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Updated: May 4, 2026

Gait Analysis of Age-dependent Motor Impairments in Mice with Neurodegeneration
Published on: June 18, 2018
Gait disorders in fatal familial insomnia
Pietro Cortelli1, Margherita Fabbri, Giovanna Calandra-Buonaura
1IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy; Department of Biomedical and NeuroMotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy.
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.
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