Atypical progression of motor symptoms in Facio-Scapulo-Humeral Dystrophy: clinical worsening or overlap?
Objective: This case highlights the importance of considering possible overlaps with PSP and other neurodegenerative diseases. Background: Facio-Scapulo-Humeral Dystrophy is a common muscular dystrophy featuring…Hereditary spastic paraplegia type 4 (SPG4): an international multicenter clinical and genetic study
Objective: To describe the epidemiological, clinical, and genetic features of patients affected by hereditary spastic paraplegia (HSP) in an international cohort of affected individuals.To describe…Characterization of gait variability of early Parkinson’s disease and multiple system atrophy
Objective: to determine the potential differences in gait characteristics between PD-GBA carriers and non-carriers (idiopathic Parkinson’s disease (iPD)), both mutually and in relation to MSA-P.…Movement Disorders in Hereditary Spastic Paraplegia (HSP): A Systematic Review and Individual Participant Data Meta-Analysis
Objective: To investigate genotype-phenotype associations in hereditary spastic paraplegia (HSP) with a focus on movement disorders. Background: HSP is a rare genetically-driven disorder associated with…Clinical and genetic research in a large Ukrainian family with autosomal recessive hereditary spastic paraplegia
Objective: To perform a clinical and genetic analysis of a large Ukrainian pedigree emigrated in Italy with autosomal recessive hereditary spastic paraplegia (ARHSP). Background: HSPs…Intrafamilial phenotypic variability of spastic paraplegia type 7: A Case Report
Objective: To characterize the phenotypic variability of spastic paraplegia type 7 in a single family. Background: Spastic paraplegia type 7 (SPG7) is an autosomal recessive…TRPV4 Mutation related Parkinson’s Disease with Scapuloperoneal spinal muscular atrophy
Objective: Scapuloperoneal spinal muscular atrophy (SPSMA) is a rare autosomal dominant disease caused by transient receptor potential cation channel (TRPV4) gene, involving scapular and peroneal…Sensor-based gait analysis in the premotor stage of LRRK2 G2019S-associated Parkinson’s disease
Objective: To evaluate in a group of asymptomatic carriers of the G2019S mutation of the LRRK2 gene if there are subclinical gait alterations, detectable with…All that is gold does not glitter: SPG11 mimicking Westphal variant of Huntington’s disease
Objective: Our objective was to bring light into infrequent causes of gait disorders in children mimicking well-known diseases, specifically with relevant family background. Background: Hereditary…Developing New Insights Into Clinical and Genetic Features of PD – The Global Parkinson’s Genetics Program (GP2) Clinical Cohorts Working Group
Objective: We aim to recruit Parkinson’s cohorts across the world for the Global Parkinson’s Genetics Program (GP2, http://gp2.org/), harmonize clinical data for joint analysis and…
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