A5023810835- Parkinson's Disease Mechanisms and Treatments
- Genetic Neurodegenerative Diseases
- Fetal and Pediatric Neurological Disorders
- Hereditary Neurological Disorders
- Peripheral Neuropathies and Disorders
- Neurological and metabolic disorders
- Neurological disorders and treatments
- Single-cell and spatial transcriptomics
- Glioma Diagnosis and Treatment
- Neuroinflammation and Neurodegeneration Mechanisms
- Botulinum Toxin and Related Neurological Disorders
- Pancreatic and Hepatic Oncology Research
- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Mitochondrial Function and Pathology
- MicroRNA in disease regulation
- Genetics and Neurodevelopmental Disorders
- Polyomavirus and related diseases
- Cancer Genomics and Diagnostics
- Brain Metastases and Treatment
- ATP Synthase and ATPases Research
- Cellular transport and secretion
- Epigenetics and DNA Methylation
- Meningioma and schwannoma management
- Circular RNAs in diseases
National Institutes of Health
2022-2024
National Institute of Neurological Disorders and Stroke
2022-2024
University of Florida
2018-2023
Northwestern University
2018
Fred Hutch Cancer Center
2011
Abstract Bi-allelic pathogenic variants in PRKN are the most common cause of autosomal recessive Parkinson’s disease (PD). 647 patients with -PD were included this international study. The present characterised and investigated for their effect on phenotype. Clinical features progression was also assessed. Among 133 index cases ( n = 582), there 58 (43.6%) structural variants, 34 (25.6%) missense, 20 (15%) frameshift, 10 splice site (7.5%%), 9 (6.8%) nonsense 2 (1.5%) indels. frequent...
Chronic inflammatory demyelinating polyneuropathy (CIDP) is an acquired disorder of peripheral nerves and nerve roots. Its cause unknown, but recently antibodies to nodal paranodal proteins have been discovered in a small subset CIDP patients. These contactin neurofascin-related immune-mediated neuropathies are thought be variants often respond suboptimally standard therapy. Here, we report patient with both anti-contactin 1 anti-neurofascin 140 whose presentation resembled phenotypes variants.
<h3>Objective:</h3> To investigate whether the location and/or type of mutation in PRKN can predict age at onset and motor severity Parkinson disease (PD) patients with bi-allelic mutations. <h3>Background:</h3> Mutations is most common cause early-onset autosomal recessive inherited PD, over 170 different mutations spanning entire gene described as being pathogenic. <h3>Design/Methods:</h3> PD pathogenic no other genes known to result monogenic were included. Phenotypic characteristics this...
Abstract Mitochondrial dysfunction causes devastating disorders, including mitochondrial myopathy. Here, we identified that diverse myopathy models elicit a protective integrated stress response (mt-ISR), mediated by OMA1-DELE1 signaling. The was similar following disruptions in mtDNA maintenance, from knockout of Tfam , and protein unfolding, disease-causing mutations CHCHD10 (G58R S59L). preponderance the directed at upregulating pathways for aminoacyl-tRNA biosynthesis, intermediates...
Mutations in MFN2 cause a range of Charcot–Marie–Tooth disease (CMT) phenotypes with different inheritance patterns and underlying pathogenic mechanisms. Recently, family dominantly inherited CMT harboring c.2222T>G (p.Leu741Trp) mutation has been reported for the first time. Here, we report second also same mutation, thereby confirming pathogenicity this mutation. Interestingly, onset is much later than previously cases.
A 56-year-old woman presented with electroclinical focal seizures in the setting of hyperglycemia (808 mg/dL) and elevated HbA1c 14.7%. She had varying seizure semiology, consisting early forced head turn to left, speech arrest, left facial twitching, impaired awareness. Her arose from right frontotemporal area on EEG (figure 1). MRI showed hypointensities prefrontal lobe that resolved after 6 months 2).
Abstract Pancreatic ductal adenocarcinoma (PDA) is a highly aggressive and lethal disease with the highest 1 5 year mortalities of any cancer. PDA notoriously difficult to detect resistant all current therapeutic modalities. Moreover, most patients present at diagnosis locally advanced or frankly metastatic disease; median survival in this setting approximately 6 months. For few (&lt;15%) for whom surgical resection possible, increases 2 years but not durable: only 20% continues decline...
A 56-year-old woman presented with electroclinical focal seizures in the setting of hyperglycemia (808 mg/dL) and elevated HbA1c 14.7%. She had varying seizure semiology, consisting early forced head turn to left, speech arrest, left facial twitching, impaired awareness. Her arose from right frontotemporal area on EEG (figure 1). MRI showed hypointensities prefrontal lobe that resolved after 6 months 2).
April 23, 2018April 10, 2018Free AccessEgr2-dependent microRNA-138 is Dispensable for Peripheral Nerve Myelination (P2.029)Hsin-Pin Lin, Idil Oksuz, John Svaren, and Rajeshwar AwatramaniAuthors Info & AffiliationsApril 2018 issue90 (15_supplement)https://doi.org/10.1212/WNL.90.15_supplement.P2.029 Letters to the Editor
One-third of patients with amyotrophic lateral sclerosis (ALS) present bulbar symptoms, exhibiting progressive dysphagia and dysarthria. In comparison, squamous cell carcinoma (SCC) the tongue can cause paralysis secondary to hypoglossal nerve infiltration. rare cases, SCC mimic motor neuron disease. Here, we describe a patient base related human papillomavirus infection who was initially misdiagnosed bulbar-onset ALS.
Diffuse midline glioma with H3 K27M mutation is a new tumor entity from 2016 which highly aggressive and classified as WHO Grade IV regardless of histopathologic features. We report case 40-year-old male diffuse pathology confirmation histone presenting predominately subacute lower motor neuron syndrome mimicking long segmental myelitis. Our will remind physicians that gliomas should be considered for differential diagnosis when there spinal cord lesion. Careful evaluation done atypical...