DCTN1 Gene: A p.(Gly59Ser) Family Report
Objective: Describing two patients from an Italian family carrying the DCTN1 p.(Gly59Ser) and their phenotypes. Background: Mutations in Dynactin 1 (DCTN1) gene are responsible for…Machine Learning-Based Frequency-Domain Analysis of Gait Acceleration for Huntington’s Disease Detection
Objective: To investigate the diagnostic utility of machine learning-driven frequency-domain analysis of gait acceleration for the objective identification of Huntington’s Disease (HD). Background: Gait disturbances…A young Peruvian woman with a stairs conundrum: Scapuloperoneal spinal muscular atrophy (SPSMA) due to a TRPV4 mutation case report
Objective: To make the first case report of SPSMA associated with TRPV4 gene mutation in the Peruvian population presented in a young Peruvian woman. Background:…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.