This is a case of a Japanese woman who presented with gait problems, rigidity, and resting tremor at age 55.
She was diagnosed with Parkinson’s Disease (as those are classic PD symptoms). Levodopa (Sinemet) didn’t help and symptoms were on both sides of her body. (In PD, levodopa helps and symptoms are unilateral.) Seventeen years into symptoms, she began experiencing frequent falls.
Later, when the patient developed vertical gaze palsy, a masked face, bradykinesia (slow movements), and axial rigidity, the diagnosis was changed to PSP. She also had retrocollis (head and neck extended backwards), grasp reflex, and bilateral Babinski signs. The resting tremor
disappeared.
Twenty-two years after symptom onset, she got a feeding tube. After that, she was still able to walk with assistance.
She died at the age of 79 — 24 years after symptom onset. Upon brain autopsy, the PSP diagnosis was confirmed. Given the mild tau pathology seen in the brain and the very slow progression, the authors argue that this is a distinct subtype of PSP.
The abstract is below.
Robin
Rinsho Shinkeigaku. 2012;52(3):156-60.
An autopsied case of progressive supranuclear palsy presenting with
slow progression and unusually prolonged disease duration.
Iwasaki Y, Mori K, Ito M, Mimuro M, Yoshida M.
Department of Neurology, Oyamada Memorial Spa Hospital.
Abstract
A 55-year-old Japanese female with no family history of neurological
disease showed gait disturbance with rigidity and resting tremor. She
was initially diagnosed with Parkinson’s disease, but neither
laterality of symptoms nor levodopa benefit were observed.
The parkinsonism and gait freezing progressed unusually slowly and she
experienced frequent falls 17 years after the onset of symptoms.
When neurologic examination revealed vertical gaze palsy, masked face,
bradykinesia and dominant axial rigidity, the diagnosis was modified
to progressive supranuclear palsy (PSP). Retrocollis, grasp reflex,
and bilateral Babinski’s sign developed, but resting tremor
disappeared.
Gastrostomy was performed 22 years after onset, after which she was
still capable of walking with assistance. Tracheotomy was not
performed.
The patient died of an acute subarachnoid hemorrhage 24 years after
onset at the age of 79. On autopsy, the brain weighed 1,050g and
showed frontal lobe atrophy. Coronal cerebral slices showed atrophy of
the globus pallidus and subthalamic nucleus. Tegmental atrophy of the
brainstem and depigmentation of the substantia nigra were observed.
Neuropathologic examination showed severe neuron loss with gliosis in
the globus pallidus, subthalamic nucleus, substantia nigra, and
tegmentum of the brainstem. The Purkinje neuron layer and cerebellar
dentate nucleus showed mild neuron loss. Globose-type neurofibrillary
tangles were widespread, particularly in the globus pallidus,
subthalamic nucleus, substantia nigra, nucleus of oculomotor nerve,
locus ceruleus, and cerebellar dentate nucleus. Glial fibrillary
tangles (coiled body and tuft-shaped astrocyte) and argyrophilic
threads were also widespread, particularly in the frontal lobe and
basal ganglia. Lewy bodies were not observed.
Although, the pathologic findings were consistent with PSP,
Gallyas-positive and tau-positive structures were generally small in
number. According to the clinicopathological findings, we speculate
that this case showed a distinct subtype of PSP with a slowly
progressive clinical course and generally mild tau deposition.
PubMed ID#: 22453039 (see pubmed.gov for this abstract number)