A 78-year-old man with progressive ataxia, palatal tremor, parkinsonism and motor neuron disease.
Objective: To report a unique case of palatal tremor associated with parkinsonism, ataxia and motor neuron disease. Background: Progressive ataxia with palatal tremor (PAPT) is…Parkinson disease with LRRK2 mutation associated with upper motor neuron dysfunction
Objective: We report a patient with genetic Parkinson disease associated with upper motor neuron dysfunction. Background: Leucine-rich repeat kinase 2 (LRRK2) mutations have been extensively…Spinocerebellar Ataxia Type 3 Presenting with Motor Neuron Disease
Objective: Spinocerebellar ataxia type 3 (SCA3) is associated with a wide spectrum of clinical manifestations, including peripheral neuropathy and amyotrophy, in addition to other motor…A novel p.Trp42Arg REEP1 mutation associated with autosomal recessive Distal spinal muscular atrophy with vocal cord and diaphragmatic paralysis
Objective: To present a patient with homozygous mutation in Receptor Expression-Enhancing Protein 1 (REEP1) gene manifesting a severe congenital Distal spinal muscular atrophy (SMA) with…Implanted Brain-Computer Interface for communication in people with motor impairment
Objective: In people with movement disorder communication can be challenging and depends heavily on their caregiver. Here we describe an ALS-patient utilizing the first fully…Tremor in motorneuron disease: central or peripheral origin?
Objective: To investigate whether postural/action tremor in motorneuron disease (MND) has a central origin. Background: MND refers to the whole spectrum of progressive degenerative diseases…Eye tracking-based measurement of cognitive functions in patients with neurodegenerative diseases
Objective: To develop and evaluate motor-free procedures via eye tracking for determining cognitive functions in patients with idiopathic Parkinson's disease (PD) and motor neuron disease…ECG-based cardiopulmonary coupling for sleep stability assessment in patients with amyotrophic lateral sclerosis
Objective: The goal of this preliminary study is to introduce the technique of CardioPulmonary Coupling (CPC) to visualize and quantify the sleep spectrograms of Amyotrophic…A rapid chemical-genetic screen utilising impaired movement phenotypes in caenorhabditis elegans
Objective: Development of a fast and unbiased screening method to identify C. elegans mutants with movement disabilities and drugs to improve impaired locomotion. Background: Identifying…Familial SPG17/distal hereditary motor neuropathy type V– Complicated hereditary spastic paraplegia with many faces
Objective: We present the clinical and genetic results of a SPG17 family with a vast intrafamilial phenotype from subclinical signs to a severe and rapidly…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.