Pure akinesia with gait freezing: a clinicopathologic study
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CASE REPORT
Open Access
Pure akinesia with gait freezing: a clinicopathologic study Ahmad Elkouzi1, Esther N. Bit-Ivan1,2 and Rodger J. Elble1*
Abstract Background: Pure akinesia with gait freezing is a rare syndrome with few autopsied cases. Severe freezing of gait occurs in the absence of bradykinesia and rigidity. Most autopsies have revealed progressive supranuclear palsy. We report the clinical and postmortem findings of two patients with pure akinesia with gait freezing, provide video recordings of these patients, and review the literature describing similar cases. We also discuss bradykinesia, hypokinesia and akinesia in the context of this clinical syndrome. Case presentation: Two patients with the syndrome of pure akinesia with gait freezing were examined by the same movement disorder specialist at least annually for 9 and 18 years. Both patients initially exhibited freezing, tachyphemia, micrographia and festination without bradykinesia and rigidity. Both autopsies revealed characteristic tau pathology of progressive supranuclear palsy, with nearly total neuronal loss and gliosis in the subthalamus and severe neuronal loss and gliosis in the globus pallidus and substantia nigra. Previously published postmortem studies revealed that most patients with this syndrome had progressive supranuclear palsy or pallidonigroluysian atrophy. Conclusions: Pallidonigroluysian degeneration produces freezing and festination in the absence of generalized slowing (bradykinesia). Freezing and festination are commonly regarded as features of akinesia. Akinesia literally means absence of movement, and akinesia is commonly viewed as an extreme of bradykinesia. The pure akinesia with gait freezing phenotype illustrates that bradykinesia and akinesia should be viewed as separate phenomena. Keywords: Akinesia, Bradykinesia, Hypokinesia, Progressive supranuclear palsy, Freezing of gait
Background Steele, Richardson and Olszewski described the classic phenotype of progressive supranuclear palsy (PSP): vertical gaze palsy, postural instability, neck rigidity, dysarthria, pseudobulbar palsy and frontal dysexecutive syndrome, but they acknowledged that further observations may broaden the clinical spectrum of PSP [1]. Several clinical phenotypes of PSP have since been described, and overlapping phenotypes are common [2, 3]. One rare phenotype is pure akinesia with gait freezing (PAGF) [3, 4]. Although this phenotype is not specific for PSP, there is growing postmortem evidence that most cases have PSP pathology. We now report the autopsy findings of two patients with PAGF, and we present videos of these patients to illustrate the clinical features and progression of this disorder. To our knowledge, these are the first published * Correspondence: [email protected] 1 Department of Neurology, Southern Illinois University School of Medicine, PO Box 19645, Springfield, IL 62794-9645, USA Full list of author information is available at the end of the article
videos of PAGF in patients with autopsy-confirmed PSP. We also briefly discuss
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