Freezing of gait (FoG) is an early symptom in PSP-PGF whereas, in PD, it generally occurs in late stages, and it is susceptible to levodopa and coexists with slowness of movement, tremor, and rigidity ( Factor, 2008 Owens et al., 2016 Höglinger et al., 2017). Early supranuclear gaze palsy, particularly combined with advanced executive dysfunction, is usually associated with PSP-RS whereas, in PSP-PGF, oculomotor dysfunction often appears later, even about 9 years after the onset of the first symptoms ( Williams et al., 2007 Respondek et al., 2014 Hong et al., 2015 Lee et al., 2018 Jabbari et al., 2020). Analysis of the rate of progression of symptoms may be useful in distinguishing between the aforementioned diseases. PSP-PGF most often causes difficulties in the differential diagnosis with PSP-RS, Parkinson’s disease (PD), and vascular Parkinsonism. Imaging studies show deterioration limited to the basal ganglia, including atrophy in volumetric magnetic resonance imaging (MRI) and increased tracer uptake in 18F-flortaucipir positron emission tomography (PET) ( Schonhaut et al., 2017 Whitwell et al., 2020). The main symptom of PSP-PGF is a gradual increase in difficulty with gait initiation that is levodopa-resistant ( Williams et al., 2007 Höglinger et al., 2017). Progressive Supranuclear Palsy-Subcortical Progressive Supranuclear Palsy-Progressive Gait Freezing This paper presents an overview and differential diagnosis of these disorders. Effective in vivo studies of rare PSP phenotypes and PSP-mimicking syndromes are not available. On the other hand, many other diseases may clinically resemble PSP. The pathology of PSP is a 4-repeat tauopathy, and its phenotypic diversity is related to the accumulation of tau protein in different brain areas ( Rösler et al., 2019 Kovacs et al., 2020). This results in a higher sensitivity in the diagnosis of PSP compared with the National Institute of Neurological Disorders and Stroke and the Society for PSP (NINDS-SPSP) criteria issued in 1996 (87.9% for MDS criteria versus 45.5% for NINDS-SPSP criteria) ( Litvan et al., 1996 Ali et al., 2019). Most of them are included in The Movement Disorders Society (MDS) criteria, introduced in 2017 ( Höglinger et al., 2017). Growing interest is now associated with less common PSP phenotypes, including PSP-PGF, PSP-PI, PSP-OM, PSP-C, PSP-F, PSP-CBS, PSP-SL, and PSP-PLS. Progressive supranuclear palsy (PSP) has been known for more than half a century, but most of the reports are on PSP-Richardson syndrome (PSP-RS) and PSP-P (PSP-Predominant Parkinsonism) ( Steele et al., 1964 Williams et al., 2005a). The purpose of this review is to discuss recent developments in rare PSP phenotypes and PSP-like syndromes. At the current stage of knowledge, it is not possible to isolate a specific marker to make a definite ante-mortem diagnosis. The individual phenotypes often show great similarity to various neurodegenerative diseases and other genetic, autoimmune, or infectious disorders, manifesting as PSP-mimicking syndromes. Diagnosis of these subtypes is usually based on clinical symptoms, thus thorough examination with anamnesis remains a major challenge for clinicians. Presently, there is increasing interest in rare PSP (progressive supranuclear palsy) variants, including PSP-PGF (PSP-progressive gait freezing), PSP-PI (PSP-postural instability), PSP-OM (PSP-ocular motor dysfunction), PSP-C (PSP-predominant cerebellar ataxia), PSP-CBS (PSP-corticobasal syndrome), PSP-SL (PSP-speech/language disorders), and PSP-PLS (PSP-primary lateral sclerosis). 4Diagnostic Ultrasound Lab, Department of Pediatric Radiology, Medical Faculty, Medical University of Warsaw, Warsaw, Poland.3Department of Internal Medicine and Endocrinology, Medical University of Warsaw, Warsaw, Poland.2Department of Neurology, Medical University of Warsaw, Warsaw, Poland.1Students’ Scientific Association of the Department of Neurology, Medical University of Warsaw, Warsaw, Poland.Patrycja Krzosek 1*, Natalia Madetko 2, Anna Migda 3, Bartosz Migda 4, Dominika Jaguś 4 and Piotr Alster 2
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