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Unusual phenotype of pathologically confirmed progressive supranuclear palsy with autonomic dysfunction and cerebellar ataxia

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ABSTRACT

Background:: Based on the results of recent multicenter clinical–pathological studies, it seems that the clinical heterogeneity of progressive supranuclear palsy (PSP) is much broader than previously thought. We will report 2 cases of patients with unusual manifestation of pathologically confirmed PSP.

Methods:: Two female patients were diagnosed with the parkinsonian phenotype of multiple system atrophy (MSAP) according to current clinical diagnostic criteria at the ages of 55 and 60 years, respectively. The patients were followed up for the next 5 and 7 years. In both cases, a detailed neuropathological examination of the brain was conducted postmortem.

Results:: In the first case, the overall pathological picture corresponded with the diagnosis of 4R tauopathy. In the second case, the brain pathology corresponded with a combination of 4R tauopathy and neocortical amyloidopathy.

Conclusion:: Some of the main symptoms of MSA, such as cerebellar ataxia and orthostatic hypotension, are not rare parts of the clinical picture of PSP. PSP can thus be mistakenly diagnosed as MSA. In order to determine the most accurate clinical diagnosis of PSP, a revision of its current clinical diagnostic criteria seems appropriate.

No MeSH data available.


Case 1. Horizontal FLAIR sequence showing rare small nonspecific (probably postischemic) white matter lesions (A). Sagittal T1-weighted MRI, showing near-normal shape of the brainstem (B). FLAIR = fluid-attenuated inversion recovery, MRI = magnetic resonance imaging.
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Figure 1: Case 1. Horizontal FLAIR sequence showing rare small nonspecific (probably postischemic) white matter lesions (A). Sagittal T1-weighted MRI, showing near-normal shape of the brainstem (B). FLAIR = fluid-attenuated inversion recovery, MRI = magnetic resonance imaging.

Mentions: The bedside Thompson test revealed orthostatic hypotension, when supine blood pressure 125/90 mm Hg dropped after 3 minutes of standing to 90/60 mm Hg, which was accompanied by blurred vision and postural faintness. The head-up tilt test (80 degrees, 10 minutes) was positive; hypotension with sweating, blurred vision, and faintness developed after 4 minutes. Brain MRI (performed in the first and fourth years of the disease course) showed mild supratentorial changes in the white matter of both hemispheres, signs of the brainstem atrophy were not present (Fig. 1A and B). MRI of the cervical spine was normal. CSF examination, ultrasound examination of intracranial arteries, and neurophysiological examinations (EMG conduction studies, needle EMG, motor-evoked potentials [MEP], visual-evoked potentials [VEP], median and tibial sensory-evoked potentials [SEP], and electroencephalography [EEG]) were normal. The apomorphine test was negative. Treatment with levodopa did not improve the patient's symptoms. A diagnosis of probable multiple-system atrophy (MSA-P) was made based on the clinical diagnostic criteria (Gilman et al). A psychological examination in the seventh year of the disease course again did not show cognitive deterioration or executive dysfunction. The patient died after 7 years of illness due to cardiac arrest.


Unusual phenotype of pathologically confirmed progressive supranuclear palsy with autonomic dysfunction and cerebellar ataxia
Case 1. Horizontal FLAIR sequence showing rare small nonspecific (probably postischemic) white matter lesions (A). Sagittal T1-weighted MRI, showing near-normal shape of the brainstem (B). FLAIR = fluid-attenuated inversion recovery, MRI = magnetic resonance imaging.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC5120903&req=5

Figure 1: Case 1. Horizontal FLAIR sequence showing rare small nonspecific (probably postischemic) white matter lesions (A). Sagittal T1-weighted MRI, showing near-normal shape of the brainstem (B). FLAIR = fluid-attenuated inversion recovery, MRI = magnetic resonance imaging.
Mentions: The bedside Thompson test revealed orthostatic hypotension, when supine blood pressure 125/90 mm Hg dropped after 3 minutes of standing to 90/60 mm Hg, which was accompanied by blurred vision and postural faintness. The head-up tilt test (80 degrees, 10 minutes) was positive; hypotension with sweating, blurred vision, and faintness developed after 4 minutes. Brain MRI (performed in the first and fourth years of the disease course) showed mild supratentorial changes in the white matter of both hemispheres, signs of the brainstem atrophy were not present (Fig. 1A and B). MRI of the cervical spine was normal. CSF examination, ultrasound examination of intracranial arteries, and neurophysiological examinations (EMG conduction studies, needle EMG, motor-evoked potentials [MEP], visual-evoked potentials [VEP], median and tibial sensory-evoked potentials [SEP], and electroencephalography [EEG]) were normal. The apomorphine test was negative. Treatment with levodopa did not improve the patient's symptoms. A diagnosis of probable multiple-system atrophy (MSA-P) was made based on the clinical diagnostic criteria (Gilman et al). A psychological examination in the seventh year of the disease course again did not show cognitive deterioration or executive dysfunction. The patient died after 7 years of illness due to cardiac arrest.

View Article: PubMed Central - PubMed

ABSTRACT

Background:: Based on the results of recent multicenter clinical–pathological studies, it seems that the clinical heterogeneity of progressive supranuclear palsy (PSP) is much broader than previously thought. We will report 2 cases of patients with unusual manifestation of pathologically confirmed PSP.

Methods:: Two female patients were diagnosed with the parkinsonian phenotype of multiple system atrophy (MSAP) according to current clinical diagnostic criteria at the ages of 55 and 60 years, respectively. The patients were followed up for the next 5 and 7 years. In both cases, a detailed neuropathological examination of the brain was conducted postmortem.

Results:: In the first case, the overall pathological picture corresponded with the diagnosis of 4R tauopathy. In the second case, the brain pathology corresponded with a combination of 4R tauopathy and neocortical amyloidopathy.

Conclusion:: Some of the main symptoms of MSA, such as cerebellar ataxia and orthostatic hypotension, are not rare parts of the clinical picture of PSP. PSP can thus be mistakenly diagnosed as MSA. In order to determine the most accurate clinical diagnosis of PSP, a revision of its current clinical diagnostic criteria seems appropriate.

No MeSH data available.