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…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…Manganese-induced parkinsonism and motor neuron damage- Can there be a relationship?
Objective: The aim of the study was evaluation of clinical, radiological and ENMG characteristic of ephedronic encephalopathy(EE). Background: The ephedrone abuse is widely spread among…Sleep motor activity in amyotrophic lateral sclerosis
Objective: To analyze quantitatively and with the most recent and advanced tools the presence of periodic leg movements during sleep (PLMS) PLMS and/or REM sleep…Frontal lobe white matter atrophy correlates with disability in spastic paraplegia type 11 (SPG11)
Objective: To evaluate in vivo signs of gray matter (GM) and white matter (WM) abnormalities, through an unbiased neuroimaging method, in a large cohort of…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.