Objective: To provide a description of a rare case of mixed progressive supranuclear palsy (PSP) and amyotrophic lateral sclerosis (ALS) in Ukrainian patient.

Background: The co-occurrence of PSP and ALS has been documented in several cases, with ongoing controversy as to whether this could be a PSP variant phenotype or result of co-pathologies [1, 2].

Method: Clinical description and laboratory testing.

Results: A 53-year-old woman complained of severe walking impairment (due to weakness in the legs and instability), severe speech impairment and atrophy of the muscles of the left hand.

History: She has had postural instability predominantly backwards and falls for 1.5 years. She could walk only with assistance for about 50 meters.

She had arterial hypertension and a subarachnoid hemorrhage in 2020 without any functional sequelae.  

Family history was unremarkable.

She had peripheral motor neuron damage on EMG. There was Mickey Mouse sign on MRI brain. Creatine phosphokinase level was 177 U/L.

On examination: Saccades were significantly limited downwards and moderately upwards. She had dysphagia and severe speech impairment (both dysarthria and bradylalia). Muscle power was slightly decreased in the left hand and was normal in the right arm and both legs. Tendon reflexes were increased with no differences between two sides. She had atrophy of the muscles of the left hand and tongue as well as tongue fasciculations. She had severe bradykinesia on the left and moderate on the right as well as moderate rigidity that was more pronounced in the left arm. 

There was a slight kinetic tremor in the left arm and there was no resting tremor. Vibration sense was normal. Her walking was very slow with a support and a tendency to fall.

Conclusion: This case demonstrates a rare case of co-morbidity of PSP (postural instability with inability to walk with no assistance, bradykinesia and rigidity, severe limitation of vertical saccades) and ALS (muscular atrophy and tongue fasciculations).

References: 1. Fujita, K., Matsubara, T., Miyamoto, R., Sumikura, H., Takeuchi, T., Maruyama Saladini, K., … & Izumi, Y. (2019). Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report. BMC neurology, 19, 1-8.
2. Nagao, S., Yokota, O., Nanba, R., Takata, H., Haraguchi, T., Ishizu, H., … & Uchitomi, Y. (2012). Progressive supranuclear palsy presenting as primary lateral sclerosis but lacking parkinsonism, gaze palsy, aphasia, or dementia. Journal of the neurological sciences, 323(1-2), 147-153.

« Back to 2025 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/concomitant-progressive-supranuclear-palsy-and-amyotrophic-lateral-sclerosis-versus-motoneuron-phenotype-of-psp-in-ukrainian-patient/