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Gerpen, Jay Van

A5012309972 | I2801572250

Mayo Clinic

Department of Neurology, Clinical Genomics Jacksonville FL United States

Citations 16

Genetic risk variants for Parkinson’s disease (PD) and cognitive impairment in four clinical PD subtypes (S3.004)

Neurology | December 7, 2023 | Volume: 90 | Issue: 15_supplement | Pages: No page available

10.1212/wnl.90.15_supplement.s3.004

Vocal cord “paralysis”: The First Sign in Multiple System Atrophy (P6.072)

Neurology | December 7, 2023 | Volume: 90 | Issue: 15_supplement | Pages: No page available

10.1212/wnl.90.15_supplement.p6.072

Family with brain calcification and SLC20A2 variant – possible anticipation (P6.051)

Neurology | December 7, 2023 | Volume: 90 | Issue: 15_supplement | Pages: No page available

10.1212/wnl.90.15_supplement.p6.051

Three Sib-Pairs of Autopsy-Confirmed Progressive Supranuclear Palsy (P5.248)

Neurology | December 7, 2023 | Volume: 82 | Issue: 10_supplement | Pages: No page available

10.1212/wnl.82.10_supplement.p5.248

Sensitivity and Specificity of Diagnostic Criteria for Progressive Supranuclear Palsy (S4.006)

Neurology | December 7, 2023 | Volume: 92 | Issue: 15_supplement | Pages: No page available

10.1212/wnl.92.15_supplement.s4.006

Analysis of a Large Progressive Supranuclear Palsy Cohort Reporting to a Single Clinical Center (P3.8-024)

Neurology | December 7, 2023 | Volume: 92 | Issue: 15_supplement | Pages: No page available

10.1212/wnl.92.15_supplement.p3.8-024

Non-Amnestic Mild Cognitive Impairment Progresses to Dementia with Lewy Bodies (S24.002)

Neurology | December 7, 2023 | Volume: 80 | Issue: 7_supplement | Pages: No page available

10.1212/wnl.80.7_supplement.s24.002

A Man with Rapid Speech and Handwriting

Movement Disorders Clinical Practice | June 19, 2023 | Volume: 10 | Issue: 8 | Pages: 1217-1218

10.1002/mdc3.13821 | PMID 37635770

Clinicopathologic subtype of Alzheimer's disease presenting as corticobasal syndrome

Alzheimer's & Dementia | August 6, 2019 | Volume: 15 | Issue: 9 | Pages: 1218-1228

10.1016/j.jalz.2019.04.011 | PMID 31399334

Abstract Introduction The corticobasal syndrome (CBS) is associated with several neuropathologic disorders, including corticobasal degeneration and Alzheimer's disease (AD). Method In this report, we studied 43 AD patients with CBS (AD‐CBS) and compared them with 42 AD patients with typical amnestic syndrome (AD‐AS), as well as 15 cases of corticobasal degeneration and CBS pathology. Results Unlike AD‐AS, AD‐CBS had prominent motor problems, including limb apraxia (90%), myoclonus (81%), and gait disorders (70%). Alien limb phenomenon was reported in 26% and cortical sensory loss in 14%. Language problems were also more frequent in AD‐CBS, and memory impairment was less frequent. AD‐CBS had more tau pathology in perirolandic cortices but less in superior temporal cortex than AD‐AS. In addition, AD‐CBS had greater neuronal loss in the substantia nigra. Discussion AD‐CBS is a clinicopathological subtype of AD with an atypical distribution of Alzheimer‐type tau pathology. Greater neuronal loss in the substantia nigra may contribute to Parkinsonism which is not a feature of typical AD.
Sensitivity and Specificity of Diagnostic Criteria for Progressive Supranuclear Palsy

Movement Disorders | February 6, 2019 | Volume: 34 | Issue: 8 | Pages: 1144-1153

10.1002/mds.27619 | PMID 30726566

Abstract Background In 2017, the International Parkinson and Movement Disorder Society put forward new clinical criteria for the diagnosis of PSP, recognizing diverse PSP phenotypes. In this study, we compared the sensitivity and specificity of the new criteria with the National Institutes of Neurological Disease and Society for Progressive Supranuclear Palsy criteria at different times. Methods Patients with clinical parkinsonism, clinical and/or neuropathological diagnosis of PSP, were identified from the Society for Progressive Supranuclear Palsy brain bank. All patients had neuropathologic diagnoses and detailed clinical examination performed by a neurologist at 1 of the 3 Mayo Clinic sites, in Florida, Arizona, and Minnesota. Clinical symptoms and signs were abstracted retrospectively in a blinded fashion and used to determine whether patients met either diagnostic criterion. Patients were divided into early and late disease stage groups using a 3‐year cutoff. Results A total of 129 patients were included, of whom 66 had PSP pathology (51%). The remainder had other neurodegenerative diseases. The overall sensitivity of the International Parkinson and Movement Disorder Society criteria was 87.9%, compared with 45.5% for the National Institutes of Neurological Disease and Society for Progressive Supranuclear Palsy criteria, whereas the specificity of the International Parkinson and Movement Disorder Society probable PSP criteria was 85.7%, compared with 90.5% for the National Institutes of Neurological Disease and Society for Progressive Supranuclear Palsy. Individual patients were noted to have features of multiple PSP phenotypes. Conclusion The International Parkinson and Movement Disorder Society criteria recognize several phenotypes of progressive supranuclear palsy and hence have higher sensitivity than the previous criteria. © 2019 International Parkinson and Movement Disorder Society