Publications by authors named "Andres F Deik"

Article Synopsis
  • * This review offers practical guidance for clinicians on identifying which patients should undergo genetic testing, what tests to order, and how these tests can benefit patient care, especially concerning common neurologic conditions.
  • * The review discusses recent developments in gene-specific treatments and clinical trials, emphasizing how genetic diagnoses can enhance prognosis, family planning, and potentially lead to better patient outcomes through targeted therapies.
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Prosody of patients with neurodegenerative disease is often impaired. We investigated changes to two prosodic cues in patients: the pitch contour and the duration of prepausal words. We analyzed recordings of picture descriptions produced by patients with neurodegenerative conditions that included either cognitive (n=223), motor (n=68), or mixed cognitive and motor impairments (n=109), and by healthy controls (n=28; HC).

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Article Synopsis
  • The study aimed to evaluate whether increasing urate levels through inosine treatment can slow down the progression of early Parkinson's disease, using data that suggests urate elevation might be beneficial.* -
  • Conducted as a phase 3 trial, 298 participants with early-stage Parkinson's disease were randomly assigned to receive either inosine to elevate serum urate levels or a placebo, over a period of up to 2 years.* -
  • Results from the study indicated no significant differences in clinical progression rates between the inosine and placebo groups, leading to an early closure of the trial based on an interim analysis.*
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Objectives: To investigate the impact of Alzheimer's disease (AD) co-pathology on an in vivo structural measure of neurodegeneration in Lewy body disorders (LBD).

Methods: We studied 72 LBD patients (Parkinson disease (PD) = 2, PD-MCI = 25, PD with dementia = 10, dementia with Lewy bodies = 35) with either CSF analysis or neuropathological examination and structural MRI during life. The cohort was divided into those harboring significant AD co-pathology, either at autopsy (intermediate/high AD neuropathologic change) or with CSF signature indicating AD co-pathology (t-tau/Aβ  > 0.

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Background The differential diagnosis of progressive supranuclear palsy (PSP) and Lewy body disorders, which include Parkinson disease and dementia with Lewy bodies, is often challenging due to the overlapping symptoms. Purpose To develop a diagnostic tool based on diffusion tensor imaging (DTI) to distinguish between PSP and Lewy body disorders at the individual-subject level. Materials and Methods In this retrospective study, skeletonized DTI metrics were extracted from two independent data sets: the discovery cohort from the Swedish BioFINDER study and the validation cohort from the Penn Frontotemporal Degeneration Center (data collected between 2010 and 2018).

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This is the case of an 84-year-old woman diagnosed with Stage IVb colon adenocarcinoma (CRC) metastatic to the liver, retroperitoneum, anastomotic site, and distal rectal sigmoid colon. She experienced intolerable side effects to systemic chemotherapy with 5-fluorouracil and bevacizumab, as well as disease progression. Next generation sequencing of her tumor was ordered, and further discussion of her malignancy's genomic information took place at a multidisciplinary molecular tumor board.

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Background: Spatial discrimination thresholds (SDTs) assess somatosensory integration, and provide a window into better understanding the pathophysiology of dystonia. They are abnormal in some focal dystonias, but normal in DYT1 dystonia. It is unknown whether SDTs are altered in DYT6 gene mutation carriers (C).

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