FTLD-TDP and progressive supranuclear palsy in comorbidity—a report of two cases with different clinical presentations

Storey, Kateřina; Johanidesová, Silvie; Matěj, Radoslav; Keller, Jiří; Rohan, Zdeněk; Rusina, Robert

doi:10.1080/13554794.2016.1264058

Cited by 3 publications

(2 citation statements)

References 22 publications

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“…There have been a few studies demonstrating contributing TDP-43 pathology in FTLD-tau, PSP. Conversely, primary FTLD-TDP, type C with overlapping FTLD-tau, PSP type has not been reported yet (10, 22, 23). This concurrent PSP pathology in our FTLD-TDP, type C cases (Cases 4 and 5) is similar to what is expected in PSP cases.…”

Section: Discussionmentioning

confidence: 99%

Mixed TDP-43 proteinopathy and tauopathy in frontotemporal lobar degeneration: nine case series

et al. 2018

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Objectives: To determine the clinical, anatomical, genetic and pathological features of dual frontotemporal lobar degeneration (FTLD) pathology: FTLD-tau and FTLD-TDP-43 in a large clinicopathological cohort. Methods: We selected subjects with mixed FTLD-TDP and FTLD-tau from 247 FTLD cases from the University of California, San Francisco Neurodegenerative Disease Brain Bank collected between 2000 and 2016 and compared their clinical, anatomical, genetic, imaging and pathological signatures with those of subjects with pure FTLD. Results: We found nine cases (3.6%) with prominent FTLD-TDP and FTLD-tau. Six cases were sporadic, whereas one case had a C9ORF72 expansion, another had a TARDBP A90V variant, and the other had an MAPT p.A152T variant. The subtypes of FTLD-TDP and FTLD-tau varied. Mixed FTLD cases were older and tended to show a higher burden of Alzheimer disease pathology (3/9, 33%). The neuroimaging signature of mixed cases, in general, included more widespread atrophy than that of pure groups. Specifically, cases of mixed corticobasal degeneration (CBD) with FTLD-TDP showed more prominent asymmetric left-sided atrophy than did those of pure CBD. However, the clinical phenotype of mixed cases was similar to that seen in pure FTLD. Conclusions: Although patients with mixed FTLD-TDP and FTLD-tau are rare, in-depth clinical, pathological and genetic investigations may shed light on the genetic and biochemical pathways that cause the accumulation of multiple proteinaceous inclusions and inform therapeutic targets that may be beneficial to each one of these abnormal protein misfoldings.

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Section: Discussionmentioning

confidence: 99%

Mixed TDP-43 proteinopathy and tauopathy in frontotemporal lobar degeneration: nine case series

et al. 2018

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“…Of further note, the comorbidity of PSP-tau and FTLD-TDP has been reported in two cases. However, these cases lacked ALS-associated symptoms, such as muscle weakness and atrophy, or pathological changes in the motor neuron system [36]. Accordingly, our case represents a unique example of the clinical and pathological comorbidity of PSP and ALS.…”

Section: Discussionmentioning

confidence: 95%

Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report

et al. 2019

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Background The coexistence of distinct neurodegenerative diseases in single cases has recently attracted greater attention. The phenotypic co-occurrence of progressive supranuclear palsy (PSP) and amyotrophic lateral sclerosis (ALS) has been documented in several cases. That said, the clinicopathological comorbidity of these two diseases has not been demonstrated. Case presentation A 77-year-old man presented with gait disturbance for 2 years, consistent with PSP with progressive gait freezing. At 79 years old, he developed muscle weakness compatible with ALS. The disease duration was 5 years after the onset of PSP and 5 months after the onset of ALS. Neuropathological findings demonstrated the coexistence of PSP and ALS. Immunohistochemical examination confirmed 4-repeat tauopathy, including globose-type neurofibrillary tangles, tufted astrocytes, and oligodendroglial coiled bodies as well as TAR DNA-binding protein 43 kDa pathology in association with upper and lower motor neuron degeneration. Immunoblotting showed hyperphosphorylated full-length 4-repeat tau bands (64 and 68 kDa) and C-terminal fragments (33 kDa), supporting the diagnosis of PSP and excluding other parkinsonian disorders, such as corticobasal degeneration. Genetic studies showed no abnormalities in genes currently known to be related to ALS or PSP. Conclusions Our case demonstrates the clinicopathological comorbidity of PSP and ALS in a sporadic patient. The possibility of multiple proteinopathies should be considered when distinct symptoms develop during the disease course. Electronic supplementary material The online version of this article (10.1186/s12883-019-1402-7) contains supplementary material, which is available to authorized users.

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Alzheimer's disease and other neurodegenerative dementias in comorbidity: A clinical and neuropathological overview

Matěj

Tesař

Rusina

2019

Clinical Biochemistry

106

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FTLD-TDP and progressive supranuclear palsy in comorbidity—a report of two cases with different clinical presentations

Cited by 3 publications

References 22 publications

Mixed TDP-43 proteinopathy and tauopathy in frontotemporal lobar degeneration: nine case series

Mixed TDP-43 proteinopathy and tauopathy in frontotemporal lobar degeneration: nine case series

Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report

Alzheimer's disease and other neurodegenerative dementias in comorbidity: A clinical and neuropathological overview

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