Movement Disorders

Date: Tuesday, September 17, 2024
Time: 11:00 AM to 12:30 PM
Room: Lake Nona A
Track: Special Interest Group (SIG)
Level: ANA2024

Description

In the Movement Disorders SIG, we will be covering important diagnostic tools and neurostimulation therapeutics in adults and pediatric neurological patients. Specifically, Dr. Roy Freeman from BIDMC will discuss the skin synuclein signature in diverse synucleinopathy, focusing on the values of skin biopsy in making differential diagnoses for multiple system atrophy, Parkinson’s disease, dementia with Lewy bodies, and pure autonomic failure. In addition, given that the cerebellum has become posited as an attractive target for the deep brain stimulation, we invited Dr. Marta San Luciano from UCSF to discuss the safety and clinical benefit of using the cerebellar deep brain stimulation in persons with dyskinetic cerebral palsy. Dr. Nora Vanegas-Arroyave from Baylor College of Medicine will also discuss the controversies of spinal cord stimulation as well as its therapeutic potential for gait disturbance in Parkinson's disease.

Objectives

  • Apply patient selection criteria for optimal outcomes in cerebellar deep brain stimulation and spinal cord stimulation.

  • Apply electrode placement techniques for optimal outcomes in cerebellar deep brain stimulation and spinal cord stimulation.

  • Apply post-operative management protocols for optimal outcomes in cerebellar deep brain stimulation and spinal cord stimulation.

  • Genome-sequencing in Multiple System Atrophy: Identification of Novel Susceptibility Loci and Generation of a Foundational Resource

    Description

    Dr. Scholz will present findings from a genome sequencing study that investigates the genetic underpinnings of multiple system atrophy (MSA), a sporadic adult-onset neurodegenerative disease characterized by parkinsonism, cerebellar ataxia, and dysautonomia. The study analyzed whole-genome sequence data from 888 MSA cases and 7,128 controls of European ancestry. Through genome-wide association testing of common variants, four genome-wide significant risk loci were identified. Functional genomics prioritized USP38-DT, KCTD7, and lnc-KCTD7-2 as new susceptibility genes for MSA. These results emphasize MSA as a primary oligodendrogliopathy, offering new insights that could inform future translational applications. The data from this research serve as a valuable resource for further investigation into synucleinopathies.

  • Skin Synuclein Signature in Diverse Synucleinopathy

    Description

    An urgent unmet need exists for an easily accessible and reliable diagnostic biomarker for the synucleinopathies - the Lewy body diseases (Parkinson’s disease (PD), dementia with Lewy bodies (DLB)), multiple system atrophy (MSA) and pure autonomic failure (PAF).  These four synucleinopathies have overlapping clinical features and are all characterized by progressive neurodegeneration and disability. Studies report that immunofluorescent detection of cutaneous alpha-synuclein deposition is a sensitive, specific, accurate and precise diagnostic biomarker in PD, DLB, MSA and PAF.  Furthermore, these diseases have different deposition characteristics that provide the basis for a unique synuclein deposition signature.